A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685657



Internal ID15075623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124518637..124736254hg38UCSC Ensembl
Innerchr10:126207206..126424823hg19UCSC Ensembl
Innerchr10:126197196..126414813hg18UCSC Ensembl
Innerchr10:126197196..126414813hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38217618
hg19217618
hg18217618
hg17217618
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)nssv685657
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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