A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734940



Internal ID15682210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204192463..204305128hg38UCSC Ensembl
Innerchr1:204161591..204274256hg19UCSC Ensembl
Innerchr1:202428214..202540879hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38112666
hg19112666
hg18112666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549039
Supporting Variants
Samples
Known GenesGOLT1A, KISS1, PLEKHA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734940
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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