A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000661



Internal ID18743192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94662150..95073723hg38UCSC Ensembl
Innerchr2:95327875..95739468hg19UCSC Ensembl
Innerchr2:94691602..95103195hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38411574
hg19411594
hg18411594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4007n100
Supporting Variantsnssv3579540
Samples
Known GenesANKRD20A8P, FAM95A, LOC442028, MAL, TEKT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000661
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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