A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173978



Internal ID15531520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192394185..193552205hg38UCSC Ensembl
Innerchr1:192363315..193521335hg19UCSC Ensembl
Innerchr1:190629938..191787958hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381158021
hg191158021
hg181158021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548658
Supporting Variants
SamplesHGDP01156
Known GenesB3GALT2, CDC73, GLRX2, MIR1278, RGS1, RGS13, RGS2, TROVE2, UCHL5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173978
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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