A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv716145



Internal ID16010101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68260224..68275566hg38UCSC Ensembl
Innerchr1:68725907..68741249hg19UCSC Ensembl
Innerchr1:68498495..68513837hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3815343
hg1915343
hg1815343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546449
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)nssv716145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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