A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520764



Internal ID15448057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169629662..169632260hg38UCSC Ensembl
Innerchr2:170486172..170488770hg19UCSC Ensembl
Innerchr2:170194418..170197016hg18UCSC Ensembl
Innerchr2:170311679..170314277hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
hg172599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677449, nssv687211, nssv677615, nssv687583, nssv675112, nssv675901
Samples
Known GenesPPIG
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520764
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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