A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687961



Internal ID15077927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130185940..130390535hg38UCSC Ensembl
Innerchr2:130943513..131148108hg19UCSC Ensembl
Innerchr2:130659983..130864578hg18UCSC Ensembl
Innerchr2:130659743..130864338hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204596
hg19204596
hg18204596
hg17204596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520559
Supporting Variants
Samples
Known GenesCCDC115, IMP4, MZT2B, PTPN18, TUBA3E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687961
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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