A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv163



Internal ID15036959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46291119..46548771hg38UCSC Ensembl
Outerchr17:44368485..44626137hg19UCSC Ensembl
Outerchr17:41724262..41981453hg18UCSC Ensembl
Outerchr17:41724262..41981453hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38257653
hg19257653
hg18257192
hg17257192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv163
SamplesNA15510
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSFP1
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv163
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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