A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10113



Internal ID15195998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19081713..19242149hg38UCSC Ensembl
Outerchr17:18985026..19145462hg19UCSC Ensembl
Outerchr17:18925751..19086055hg18UCSC Ensembl
Outerchr17:18925751..19086055hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38160437
hg19160437
hg18160305
hg17160305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2001
Supporting Variants
SamplesNA18956
Known GenesEPN2, GRAPL
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)nssv10113
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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