A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5625



Internal ID15543814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:236742..265238hg38UCSC Ensembl
Outerchr17:86533..115029hg19UCSC Ensembl
Outerchr17:86533..115029hg18UCSC Ensembl
Outerchr17:86533..115029hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg385434
hg195434
hg185434
hg175434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1937
Supporting Variants
SamplesNA19129
Known GenesRPH3AL
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)nssv5625
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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