A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546417



Internal ID15987140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62077045..62191858hg38UCSC Ensembl
Innerchr1:62542717..62657530hg19UCSC Ensembl
Innerchr1:62315305..62430118hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38114814
hg19114814
hg18114814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716091
Samples
Known GenesINADL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546417
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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