A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695104



Internal ID15431756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118967575..118975372hg38UCSC Ensembl
Innerchr2:119725151..119732948hg19UCSC Ensembl
Innerchr2:119441621..119449418hg18UCSC Ensembl
Innerchr2:119441381..119449178hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg387798
hg197798
hg187798
hg177798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522323
Supporting Variants
Samples
Known GenesMARCO
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695104
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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