A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7331



Internal ID15189847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47921271..47942260hg38UCSC Ensembl
Outerchr17:45998637..46019626hg19UCSC Ensembl
Outerchr17:43353636..43374625hg18UCSC Ensembl
Outerchr17:43353636..43374625hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3820990
hg1920990
hg1820990
hg1720990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2072
Supporting Variants
SamplesNA12156
Known GenesLOC100506325, PNPO, SP2
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)nssv7331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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