A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964



Internal ID15206299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:24948071..24992780hg38UCSC Ensembl
Outerchr13:25522209..25566918hg19UCSC Ensembl
Outerchr13:24420209..24464918hg18UCSC Ensembl
Outerchr13:24420209..24464918hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3844710
hg1944710
hg1844710
hg1744710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5467
SamplesNA19129
Known GenesTPTE2P1
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)nsv964
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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