A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173851



Internal ID15507388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54112728..54125649hg38UCSC Ensembl
Innerchr1:54578401..54591322hg19UCSC Ensembl
Innerchr1:54350989..54363910hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3812922
hg1912922
hg1812922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546264
Supporting Variants
Samples1780854558_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173851
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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