A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592505



Internal ID16379914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:169791864..169941482hg38UCSC Ensembl
Innerchr3:169509652..169659270hg19UCSC Ensembl
Innerchr3:170992346..171141964hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38149619
hg19149619
hg18149619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152053
SamplesNINDS_230
Known GenesLRRC31, LRRC34, LRRIQ4, SAMD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592505
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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