A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1986



Internal ID15199863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13004363..13034863hg38UCSC Ensembl
Outerchr17:12907680..12938180hg19UCSC Ensembl
Outerchr17:12848405..12878905hg18UCSC Ensembl
Outerchr17:12848405..12878905hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg388936
hg198936
hg188936
hg178936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6699
SamplesNA12156
Known GenesELAC2
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)nsv1986
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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