A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520037



Internal ID15447330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126103429..126135566hg38UCSC Ensembl
Innerchr3:125822272..125854409hg19UCSC Ensembl
Innerchr3:127304962..127337099hg18UCSC Ensembl
Innerchr3:127304970..127337107hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3832138
hg1932138
hg1832138
hg1732138
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689095, nssv660184, nssv696661
Samples
Known GenesALDH1L1, ALDH1L1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520037
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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