A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546018



Internal ID16333427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38130192..38138713hg38UCSC Ensembl
Innerchr1:38595864..38604385hg19UCSC Ensembl
Innerchr1:38368451..38376972hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg388522
hg198522
hg188522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712365
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546018
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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