A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683269



Internal ID15073235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124518637..124691769hg38UCSC Ensembl
Innerchr10:126207206..126380338hg19UCSC Ensembl
Innerchr10:126197196..126370328hg18UCSC Ensembl
Innerchr10:126197196..126370328hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38173133
hg19173133
hg18173133
hg17173133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521161
Supporting Variants
Samples
Known GenesFAM53B, LHPP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683269
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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