A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565187



Internal ID16352596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75053172..75057554hg38UCSC Ensembl
Innerchr14:75519875..75524257hg19UCSC Ensembl
Innerchr14:74589628..74594010hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384383
hg194383
hg184383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3778n54
Supporting Variantsnssv829521
Samples
Known GenesACYP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565187
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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