A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729743



Internal ID15677013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182391034..182392217hg38UCSC Ensembl
Innerchr1:182360169..182361352hg19UCSC Ensembl
Innerchr1:180626792..180627975hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381184
hg191184
hg181184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548363
Supporting Variants
Samples
Known GenesGLUL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729743
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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