A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173661



Internal ID15507378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9336601hg38UCSC Ensembl
Innerchr1:9318401..9396660hg19UCSC Ensembl
Innerchr1:9240988..9319247hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3878260
hg1978260
hg1878260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545353
Supporting Variants
Samples1780854556_A
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173661
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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