A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173085



Internal ID15873640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105161429..105274472hg38UCSC Ensembl
Innerchr1:105704051..105817094hg19UCSC Ensembl
Innerchr1:105505574..105618617hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38113044
hg19113044
hg18113044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547236
Supporting Variants
SamplesHGDP00279
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173085
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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