A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2068



Internal ID8513613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45994340..46029208hg38UCSC Ensembl
Outerchr17:44071706..44106574hg19UCSC Ensembl
Outerchr17:41427543..41462421hg18UCSC Ensembl
Outerchr17:41427543..41462421hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386122
hg196122
hg186122
hg176122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1373
SamplesNA19240
Known GenesMAPT, STH
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)nsv2068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer