A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv732514



Internal ID16026470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188579874..188672086hg38UCSC Ensembl
Innerchr1:188549005..188641217hg19UCSC Ensembl
Innerchr1:186815628..186907840hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3892213
hg1992213
hg1892213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548474
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)nssv732514
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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