A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000622



Internal ID18743153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16876990..16959812hg38UCSC Ensembl
Innerchr1:17203485..17286307hg19UCSC Ensembl
Innerchr1:17076072..17158894hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3882823
hg1982823
hg1882823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv111n100
Supporting Variantsnssv3472593, nssv3467157
Samples
Known GenesCROCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000622
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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