A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3477463



Internal ID18720880
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 StatusS
Merged Variantsnsv1008462
Supporting Variants
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)nssv3477463
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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