A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv918048



Internal ID15865318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126628634..126731455hg38UCSC Ensembl
Innerchr2:127386211..127489031hg19UCSC Ensembl
Innerchr2:127102681..127205501hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38102822
hg19102821
hg18102821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583011
Supporting Variants
Samples
Known GenesGYPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv918048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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