A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997827



Internal ID19157364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76463343..76735772hg38UCSC Ensembl
Innerchr1:76929028..77201457hg19UCSC Ensembl
Innerchr1:76701616..76974045hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38272430
hg19272430
hg18272430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464499
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997827
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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