A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704000



Internal ID15440652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148525501..148572682hg38UCSC Ensembl
Innerchr2:149283070..149330251hg19UCSC Ensembl
Innerchr2:148999540..149046721hg18UCSC Ensembl
Innerchr2:149116802..149163983hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3847182
hg1947182
hg1847182
hg1747182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527539
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704000
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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