A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695382



Internal ID15432034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28615660..28633354hg38UCSC Ensembl
Innerchr2:28838527..28856220hg19UCSC Ensembl
Innerchr2:28692031..28709724hg18UCSC Ensembl
Innerchr2:28750178..28767871hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3817695
hg1917694
hg1817694
hg1717694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517970
Supporting Variants
Samples
Known GenesPLB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695382
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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