A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521161



Internal ID15101768
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683269, nssv705244, nssv685657, nssv695395, nssv705602, nssv701557
Samples
Known GenesFAM53B, LHPP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521161
Frequency
Sample Size2026
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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