A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008462



Internal ID18750993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37938366..37982665hg38UCSC Ensembl
Innerchr1:38404038..38448337hg19UCSC Ensembl
Innerchr1:38176625..38220924hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3844300
hg1944300
hg1844300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3477463
Samples
Known GenesINPP5B, SF3A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008462
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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