A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv860



Internal ID15206195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101726092..101737832hg38UCSC Ensembl
Outerchr12:102119870..102131610hg19UCSC Ensembl
Outerchr12:100644001..100655741hg18UCSC Ensembl
Outerchr12:100622338..100634078hg17UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811741
hg1911741
hg1811741
hg1711741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10878
SamplesNA18956
Known GenesCHPT1, SYCP3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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