A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2134



Internal ID15546697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70443163..70504932hg38UCSC Ensembl
Outerchr17:68439304..68501073hg19UCSC Ensembl
Outerchr17:65950899..66012668hg18UCSC Ensembl
Outerchr17:65950899..66012668hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3861770
hg1961770
hg1861770
hg1761770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10978, nssv5670, nssv6729, nssv2184
SamplesNA12156, NA15510, NA18555, NA19129
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)nsv2134
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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