A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545173



Internal ID15985896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5833391..6025293hg38UCSC Ensembl
Innerchr1:5893451..6085353hg19UCSC Ensembl
Innerchr1:5816038..6007940hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38191903
hg19191903
hg18191903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708952
Samples
Known GenesKCNAB2, MIR4689, NPHP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545173
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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