A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548398



Internal ID15989121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185167326..186033962hg38UCSC Ensembl
Innerchr1:185136458..186003094hg19UCSC Ensembl
Innerchr1:183403081..184269717hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38866637
hg19866637
hg18866637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729845
Samples
Known GenesHMCN1, IVNS1ABP, LOC100288079, SWT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548398
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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