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Human Genome Issue HG-1176

Summary:
NOVEL patch created to capture sequence from AC214012.3 not represented in reference chromosome
Description:
NOVEL patch GL383563.1 created to capture sequence from AC214012.3 not represented in reference chromosome
Status:
Resolved (GRC Resolved by Experimental Method)
Type:
Variation
Last updated:
2016-01-04
Affects version:
GRCh37
Fix version:
GRCh37.p2, GRCh37.p13, GRCh38
Resolution:
Scaffold GL383563.1 was created to capture sequence from AC214012.3 not represented in reference chromosome. The update to GL383563.2 corrected 3 single nucleotide errors. The update to GL383563.3 extended the scaffold by adding 4 additional components that also contained sequence not present on the reference chromosome. These sequences are described in HG-1760, HG-1766, HG-1768 and HG-1769.

Patches and alternate loci

Scaffold type:
ALT in GRCh37
Comment:
In this scaffold, AC214012.3 represents a sequence variant containing approximately 17 kb that does not align to GRCh37 NC_000017.10 components AC108004.3 or AC129507.10. The update to this patch corrects 3 single nucleotide errors in GRCh37 anchoring component AC108004.3.
Revision history of patches and alts for HG-1176
Assembly Scaffold type Contig name GenBank accession RefSeq accession Region
GRCh37.p2 NOVEL HSCHR17_1_CTG1 GL383563.1 NW_003315952.1 RPH3AL
GRCh37.p10 NOVEL HSCHR17_1_CTG1 GL383563.1 NW_003315952.1 DOC2B_RPH3AL
GRCh37.p13 NOVEL HSCHR17_1_CTG1 GL383563.2 NW_003315952.2 DOC2B_RPH3AL
GRCh38 ALT HSCHR17_1_CTG1 GL383563.3 NW_003315952.3 DOC2B_RPH3AL

Locations and genomic context

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