A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676446



Internal ID15413098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108963282..108969981hg38UCSC Ensembl
Innerchr2:109579738..109586437hg19UCSC Ensembl
Innerchr2:108946170..108952869hg18UCSC Ensembl
Innerchr2:109038256..109044955hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg386700
hg196700
hg186700
hg176700
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516437
Supporting Variants
Samples
Known GenesEDAR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676446
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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