A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1357



Internal ID15197672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19071255..19239540hg38UCSC Ensembl
Outerchr17:18974568..19142853hg19UCSC Ensembl
Outerchr17:18915293..19083446hg18UCSC Ensembl
Outerchr17:18915293..19083446hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38168286
hg19168286
hg18168154
hg17168154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2001
Supporting Variants
SamplesNA19240
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)nssv1357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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