A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547614



Internal ID16335023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118531596..118564313hg38UCSC Ensembl
Innerchr1:119074219..119106936hg19UCSC Ensembl
Innerchr1:118875742..118908459hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832718
hg1932718
hg1832718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723007
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547614
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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