A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516672



Internal ID15097279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128250324..128401083hg38UCSC Ensembl
Innerchr2:129007898..129158657hg19UCSC Ensembl
Innerchr2:128724368..128875127hg18UCSC Ensembl
Innerchr2:128724128..128874887hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38150760
hg19150760
hg18150760
hg17150760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv660249, nssv697414, nssv670068, nssv661842, nssv656142, nssv699513, nssv702583
Samples
Known GenesHS6ST1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516672
Frequency
Sample Size2026
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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