A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704369



Internal ID15441021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207655319..207671812hg38UCSC Ensembl
Innerchr2:208520043..208536536hg19UCSC Ensembl
Innerchr2:208228288..208244781hg18UCSC Ensembl
Innerchr2:208345549..208362042hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3816494
hg1916494
hg1816494
hg1716494
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527870
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704369
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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