A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518123



Internal ID8412398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52762874..52769497hg38UCSC Ensembl
Innerchr10:54522634..54529257hg19UCSC Ensembl
Innerchr10:54192640..54199263hg18UCSC Ensembl
Innerchr10:54192640..54199263hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg386624
hg196624
hg186624
hg176624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695541
Samples
Known GenesMBL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518123
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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