A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545349



Internal ID15986072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9249687..9336601hg38UCSC Ensembl
Innerchr1:9309746..9396660hg19UCSC Ensembl
Innerchr1:9232333..9319247hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3886915
hg1986915
hg1886915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97n54
Supporting Variantsnssv709655, nssv709656
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545349
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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