A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568530



Internal ID16355939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24540053..24862075hg38UCSC Ensembl
Innerchr15:24785200..25107222hg19UCSC Ensembl
Innerchr15:22336293..22658315hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38322023
hg19322023
hg18322023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv838764
Samples
Known GenesNPAP1, PWRN1, SNRPN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568530
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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