A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5646



Internal ID15197104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19104096..19268498hg38UCSC Ensembl
Outerchr17:19007409..19171811hg19UCSC Ensembl
Outerchr17:18948134..19112404hg18UCSC Ensembl
Outerchr17:18948134..19112404hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38164403
hg19164403
hg18164271
hg17164271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2001
Supporting Variants
SamplesNA19129
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)nssv5646
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer