A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592601



Internal ID16380010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175465040..175487360hg38UCSC Ensembl
Innerchr3:175182828..175205148hg19UCSC Ensembl
Innerchr3:176665522..176687842hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3822321
hg1922321
hg1822321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv981605
Samples
Known GenesNAALADL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592601
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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