A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515594



Internal ID15443205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223375965..223378723hg38UCSC Ensembl
Innerchr2:224240683..224243441hg19UCSC Ensembl
Innerchr2:223948927..223951685hg18UCSC Ensembl
Innerchr2:224066188..224068946hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382759
hg192759
hg182759
hg172759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685182, nssv664035
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515594
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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