A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5477



Internal ID15197308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52276798..52569993hg38UCSC Ensembl
Outerchr13:52850933..53144128hg19UCSC Ensembl
Outerchr13:51748934..52042129hg18UCSC Ensembl
Outerchr13:51748934..52042129hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38293196
hg19293196
hg18293196
hg17293196
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7242
Supporting Variants
SamplesNA19129
Known GenesCKAP2, THSD1, TPTE2P3, VPS36
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)nssv5477
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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