A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv161



Internal ID15036660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45496487..45517762hg38UCSC Ensembl
Outerchr17:43573853..43595128hg19UCSC Ensembl
Outerchr17:40929636..40950911hg18UCSC Ensembl
Outerchr17:40929636..40950911hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389753
hg199753
hg189753
hg179753
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv161
Supporting Variants
SamplesNA15510
Known GenesLRRC37A4P
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)nssv161
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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