A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700996



Internal ID15090962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126024828..126155545hg38UCSC Ensembl
Innerchr3:125743671..125874388hg19UCSC Ensembl
Innerchr3:127226361..127357078hg18UCSC Ensembl
Innerchr3:127226369..127357086hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38130718
hg19130718
hg18130718
hg17130718
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524971
Supporting Variants
Samples
Known GenesALDH1L1, ALDH1L1-AS1, SLC41A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700996
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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