ClinVar

GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3

Genes:

• LOC130003773:ATAC-STARR-seq lymphoblastoid active region 3327 [Gene]
• LOC130003774:ATAC-STARR-seq lymphoblastoid active region 3328 [Gene]
• LOC130003772:ATAC-STARR-seq lymphoblastoid silent region 2353 [Gene]
• AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
• AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
• LOC126860929:BRD4-independent group 4 enhancer GRCh37_chr10:48324479-48325678 [Gene]
• LOC126860928:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48473688-48474887 [Gene]
• LOC126860927:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48600992-48602191 [Gene]
• GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
• SYT15-AS1:SYT15 antisense RNA 1 [Gene - HGNC]
• LOC111818966:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 1 [Gene]
• LOC111818967:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 2 [Gene]
• ANXA8:annexin A8 [Gene - OMIM - HGNC]
• FAM245B:family with sequence similarity 245 member B [Gene - HGNC]
• FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
• GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
• GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
• LINC02637:long intergenic non-protein coding RNA 2637 [Gene - HGNC]
• LINC03029:long intergenic non-protein coding RNA 3029 [Gene - HGNC]
• NPY4R2:neuropeptide Y receptor Y4-2 [Gene - HGNC]
• PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
• RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
• SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
• SYT15B:synaptotagmin 15B [Gene - HGNC]
• LOC102724593:uncharacterized LOC102724593 [Gene]
• LOC105378289:uncharacterized LOC105378289 [Gene]
• LOC107001062:uncharacterized LOC107001062 [Gene]
• ZNF488:zinc finger protein 488 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

10q11.22

Genomic location:

• Chr10: 46489780 - 47923579 (on Assembly GRCh38)
• Chr10: 47006954 - 47323674 (on Assembly GRCh37)
• Chr10: 46371235 - 46830487 (on Assembly NCBI36)

Preferred name:

GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3

HGVS:

• NC_000010.11:g.(?_46489780)_(47923579_?)dup
• NC_000010.10:g.(?_47006954)_(47323674_?)dup
• NC_000010.9:g.(?_46371235)_(46830487_?)dup

This HGVS expression did not pass validation

Note:

When NCBI calculated the location of this variant on an assembly more recent than the one on which the variant was originally described, there were multiple placements. This suggests the variant falls within a region of the genome that changed significantly between assemblies. We present the highest-scoring placement here; however the variant's location should be interpreted with caution.

Links:

dbVar: nssv1603237; dbVar: nsv497879

Observations:

1