A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1947



Internal ID15546510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3641882..3673842hg38UCSC Ensembl
Outerchr17:3545176..3577136hg19UCSC Ensembl
Outerchr17:3491925..3523885hg18UCSC Ensembl
Outerchr17:3491925..3523885hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387300
hg197300
hg187300
hg177300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5632
SamplesNA19129
Known GenesCTNS, EMC6, P2RX5, P2RX5-TAX1BP3, TAX1BP3
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)nsv1947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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