A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545130



Internal ID15985853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3826568..4283888hg38UCSC Ensembl
Innerchr1:3743132..4343948hg19UCSC Ensembl
Innerchr1:3732992..4243808hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38457321
hg19600817
hg18510817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1172591
Samples1780862339_A
Known GenesC1orf174, CEP104, DFFB, LINC01134, LOC728716
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545130
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer