A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2037



Internal ID15194634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52276896..52497827hg38UCSC Ensembl
Outerchr13:52851031..53071962hg19UCSC Ensembl
Outerchr13:51749032..51969963hg18UCSC Ensembl
Outerchr13:51749032..51969963hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38220932
hg19220932
hg18220932
hg17220932
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7242
Supporting Variants
SamplesNA18555
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)nssv2037
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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