A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519237



Internal ID15446530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234141699..234143898hg38UCSC Ensembl
Innerchr1:234277445..234279644hg19UCSC Ensembl
Innerchr1:232344068..232346267hg18UCSC Ensembl
Innerchr1:230584180..230586379hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382200
hg192200
hg182200
hg172200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696728
Samples
Known GenesSLC35F3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519237
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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