A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546685



Internal ID16334094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82760096..82799325hg38UCSC Ensembl
Innerchr1:83225779..83265008hg19UCSC Ensembl
Innerchr1:82998367..83037596hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3839230
hg1939230
hg1839230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718377
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546685
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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