A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718325



Internal ID16012281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79997852..80091130hg38UCSC Ensembl
Innerchr1:80463537..80556815hg19UCSC Ensembl
Innerchr1:80236125..80329403hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3893279
hg1993279
hg1893279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546647
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)nssv718325
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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