A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2034



Internal ID15194631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48952625..48965532hg38UCSC Ensembl
Outerchr13:49526761..49539668hg19UCSC Ensembl
Outerchr13:48424762..48437669hg18UCSC Ensembl
Outerchr13:48424762..48437669hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3812908
hg1912908
hg1812908
hg1712908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1034
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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