A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1937



Internal ID15546500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:236742..274809hg38UCSC Ensembl
Outerchr17:86533..124600hg19UCSC Ensembl
Outerchr17:86533..124600hg18UCSC Ensembl
Outerchr17:86533..124600hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg385434
hg195434
hg185434
hg175434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1333, nssv5625
SamplesNA19240, NA19129
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)nsv1937
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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