A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2058



Internal ID15546621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43344710..43373037hg38UCSC Ensembl
Outerchr17:41422078..41450405hg19UCSC Ensembl
Outerchr17:38777604..38805931hg18UCSC Ensembl
Outerchr17:38777604..38805931hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387290
hg197290
hg187290
hg177290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10122, nssv1370, nssv5658
SamplesNA18956, NA19240, NA19129
Known GenesLINC00910
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)nsv2058
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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