A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712643



Internal ID16006599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40906820hg38UCSC Ensembl
Innerchr1:41347228..41372492hg19UCSC Ensembl
Innerchr1:41119815..41145079hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3825265
hg1925265
hg1825265
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546094
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712643
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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