A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619523



Internal ID15818104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25714633..25736704hg38UCSC Ensembl
Outerchr8:25572149..25594220hg19UCSC Ensembl
Outerchr8:25628066..25650137hg18UCSC Ensembl
Outerchr8:25628066..25650137hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384077
hg194077
hg184077
hg174077
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509256
Supporting Variants
SamplesNA10860
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619523
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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