A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148605



Internal ID15879685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46062769..46330787hg38UCSC Ensembl
Innerchr14:46531972..46799990hg19UCSC Ensembl
Innerchr14:45601722..45869740hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38268019
hg19268019
hg18268019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564736
Supporting Variants
SamplesHGDP01416
Known GenesLINC00871
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148605
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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