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Human Genome Issue HG-1497

Summary:
Four separate new ampliconic pathways in the same region on Chrom. X
Description:
Four separate ampliconic pathways on Chrom. X should be combined.
Status:
Resolved (GRC Resolved by Experimental Method)
Type:
Path Problem
Last updated:
2016-07-18
Affects version:
GRCh37
Fix version:
GRCh37.p10, GRCh37.p13, GRCh38
Resolution:
To address the 4 ampliconic pathways (HG-1454, HG-1455, HG-1456, HG-1457), a new path has been uploaded to the patches TPF and chromosome TPF. As a result of the update, parts of the assembly within this region now appear as inverted when compared against previous assemblies. The retiling effort for the ampliconic regions of chr. X is described in PubMed ID: 23872635.

Patches and alternate loci

Scaffold type:
FIX patch to GRCh37
Comment:
This sequence will be incorporated into the reference assembly in the next major assembly release. At that time, the accession number for this patch will be made secondary to the reference chromosome accession. This patch contains FQ908264.1, which corrects 2 indels in NC_000023.10 component AF274858.3 that affect representation of the coding sequence for FAM58A (NM_152274.3). It also introduces a 1 nt insertion in the 5' UTR of this mRNA that is supported by transcript evidence.
Revision history of patches and alts for HG-1497
Assembly Scaffold type Contig name GenBank accession RefSeq accession Region
GRCh37.p6 FIX HG681_PATCH JH159150.1 NW_003871103.1 REGION67
GRCh37.p10 FIX HG1497_PATCH JH159150.2 NW_003871103.2 REGION67
GRCh37.p13 FIX HG1497_PATCH JH159150.3 NW_003871103.3 REGION67

Locations and genomic context

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  • (View region: Ensembl | NCBI | UCSC)
  • (View region: Ensembl | NCBI | UCSC)