A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700575



Internal ID15090541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123175405..123223935hg38UCSC Ensembl
Innerchr3:122894252..122942782hg19UCSC Ensembl
Innerchr3:124376942..124425472hg18UCSC Ensembl
Innerchr3:124376942..124425472hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3848531
hg1948531
hg1848531
hg1748531
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524614
Supporting Variants
Samples
Known GenesSEC22A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700575
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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