A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv164



Internal ID15383637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72853696..72882914hg38UCSC Ensembl
Outerchr17:70849835..70879053hg19UCSC Ensembl
Outerchr17:68361430..68390648hg18UCSC Ensembl
Outerchr17:68361430..68390648hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg388940
hg198940
hg188940
hg178940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv164
SamplesNA15510
Known GenesSLC39A11
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)nsv164
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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