A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2085



Internal ID15546648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51421920..51454519hg38UCSC Ensembl
Outerchr17:49499281..49531880hg19UCSC Ensembl
Outerchr17:46854280..46886879hg18UCSC Ensembl
Outerchr17:46854280..46886879hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386836
hg196836
hg186836
hg176836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6725
SamplesNA12156
Known Genes
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)nsv2085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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