A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034



Internal ID15198911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48952625..48998591hg38UCSC Ensembl
Outerchr13:49526761..49572727hg19UCSC Ensembl
Outerchr13:48424762..48470728hg18UCSC Ensembl
Outerchr13:48424762..48470728hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3845967
hg1945967
hg1845967
hg1745967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2034, nssv9120
SamplesNA12156, NA18555
Known GenesFNDC3A
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)nsv1034
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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