A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685205



Internal ID15075171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127039538..127094121hg38UCSC Ensembl
Innerchr2:127797114..127851697hg19UCSC Ensembl
Innerchr2:127513584..127568167hg18UCSC Ensembl
Innerchr2:127513344..127567927hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3854584
hg1954584
hg1854584
hg1754584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516759
Supporting Variants
Samples
Known GenesBIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685205
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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