A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2057



Internal ID15199934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42946856..42980330hg38UCSC Ensembl
Outerchr17:41098873..41132347hg19UCSC Ensembl
Outerchr17:38352399..38385873hg18UCSC Ensembl
Outerchr17:38352399..38385873hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385943
hg195943
hg185943
hg175943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7329
SamplesNA12156
Known GenesAARSD1, PTGES3L, PTGES3L-AARSD1
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)nsv2057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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