A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516759



Internal ID15097366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127039090..127101865hg38UCSC Ensembl
Innerchr2:127796666..127859441hg19UCSC Ensembl
Innerchr2:127513136..127575911hg18UCSC Ensembl
Innerchr2:127512896..127575671hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3862776
hg1962776
hg1862776
hg1762776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690241, nssv698704, nssv670652, nssv654919, nssv685205, nssv674777, nssv685642, nssv691455
Samples
Known GenesBIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516759
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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