A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518056



Internal ID15098663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97970379..98539833hg38UCSC Ensembl
Innerchr2:98586842..99156296hg19UCSC Ensembl
Innerchr2:97953274..98522728hg18UCSC Ensembl
Innerchr2:98045360..98614814hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38569455
hg19569455
hg18569455
hg17569455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695467
Samples
Known GenesCNGA3, INPP4A, TMEM131, VWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518056
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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