A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214



Internal ID15201115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233475790..233508303hg38UCSC Ensembl
Outerchr2:234384436..234416949hg19UCSC Ensembl
Outerchr2:234049175..234081688hg18UCSC Ensembl
Outerchr2:234166436..234198949hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3832514
hg1932514
hg1832514
hg1732514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7632
SamplesNA12156
Known GenesUSP40
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)nsv3214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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