A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9492



Internal ID15193136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52335693..52520741hg38UCSC Ensembl
Outerchr13:52909828..53094876hg19UCSC Ensembl
Outerchr13:51807829..51992877hg18UCSC Ensembl
Outerchr13:51807829..51992877hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38185049
hg19185049
hg18185049
hg17185049
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7242
Supporting Variants
SamplesNA18507
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)nssv9492
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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