A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548589



Internal ID16335998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191577444..191667844hg38UCSC Ensembl
Innerchr1:191546574..191636974hg19UCSC Ensembl
Innerchr1:189813197..189903597hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3890401
hg1990401
hg1890401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732604
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548589
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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