A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548708



Internal ID16336117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195197781..195297942hg38UCSC Ensembl
Innerchr1:195166911..195267072hg19UCSC Ensembl
Innerchr1:193433534..193533695hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38100162
hg19100162
hg18100162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173989
Samples1798860071_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548708
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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