A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004129



Internal ID18746660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96072837..96159625hg38UCSC Ensembl
Innerchr2:96738585..96825363hg19UCSC Ensembl
Innerchr2:96102312..96189090hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3886789
hg1986779
hg1886779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4009n100
Supporting Variantsnssv3579553, nssv3579552
Samples
Known GenesADRA2B, ASTL, DUSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004129
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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