A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1989



Internal ID15546552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:14011963..14031509hg38UCSC Ensembl
Outerchr17:13915280..13934826hg19UCSC Ensembl
Outerchr17:13856005..13875551hg18UCSC Ensembl
Outerchr17:13856005..13875551hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3819547
hg1919547
hg1819547
hg1719547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7313
SamplesNA12156
Known GenesCDRT15P1, COX10-AS1
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)nsv1989
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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