A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv709657



Internal ID15656927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9306793hg38UCSC Ensembl
Innerchr1:9318401..9366852hg19UCSC Ensembl
Innerchr1:9240988..9289439hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3848452
hg1948452
hg1848452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545350
Supporting Variants
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv709657
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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