A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173930



Internal ID15531656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186773815..186834094hg38UCSC Ensembl
Innerchr1:186742947..186803226hg19UCSC Ensembl
Innerchr1:185009570..185069849hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3860280
hg1960280
hg1860280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548406
Supporting Variants
SamplesHGDP01185
Known GenesPLA2G4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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