A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173943



Internal ID15877189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188801458..188913906hg38UCSC Ensembl
Innerchr1:188770589..188883037hg19UCSC Ensembl
Innerchr1:187037212..187149660hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38112449
hg19112449
hg18112449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548480
Supporting Variants
SamplesHGDP00948
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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