A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7333



Internal ID15536531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49533400..49578125hg38UCSC Ensembl
Outerchr17:47610762..47655487hg19UCSC Ensembl
Outerchr17:44965761..45010486hg18UCSC Ensembl
Outerchr17:44965761..45010486hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3844726
hg1944726
hg1844726
hg1744726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2078
Supporting Variants
SamplesNA12156
Known GenesLOC100288866, NXPH3
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)nssv7333
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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