A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2001



Internal ID15199878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19071255..19268498hg38UCSC Ensembl
Outerchr17:18974568..19171811hg19UCSC Ensembl
Outerchr17:18915293..19112404hg18UCSC Ensembl
Outerchr17:18915293..19112404hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38197244
hg19197244
hg18197112
hg17197112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5646, nssv10113, nssv1357
SamplesNA18956, NA19240, NA19129
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)nsv2001
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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