A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677595



Internal ID15414247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207852021..207853059hg38UCSC Ensembl
Innerchr2:208716745..208717783hg19UCSC Ensembl
Innerchr2:208424990..208426028hg18UCSC Ensembl
Innerchr2:208542251..208543289hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381039
hg191039
hg181039
hg171039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520066
Supporting Variants
Samples
Known GenesPLEKHM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv677595
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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