A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2006



Internal ID15199883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20943450..20989417hg38UCSC Ensembl
Outerchr17:20846763..20892730hg19UCSC Ensembl
Outerchr17:20787355..20833322hg18UCSC Ensembl
Outerchr17:20787355..20833322hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3845968
hg1945968
hg1845968
hg1745968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6708
SamplesNA12156
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)nsv2006
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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