A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1143



Internal ID15544594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45369418..45386161hg38UCSC Ensembl
Outerchr13:45943553..45960296hg19UCSC Ensembl
Outerchr13:44841553..44858296hg18UCSC Ensembl
Outerchr13:44841553..44858296hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg387629
hg197629
hg187629
hg177629
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023
Supporting Variants
SamplesNA19240
Known GenesTPT1-AS1
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)nssv1143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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