A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1996



Internal ID15546559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17166350..17198703hg38UCSC Ensembl
Outerchr17:17069664..17102017hg19UCSC Ensembl
Outerchr17:17010389..17042742hg18UCSC Ensembl
Outerchr17:17010389..17042742hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387084
hg197084
hg187084
hg177084
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6702
SamplesNA12156
Known GenesMPRIP
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)nsv1996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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