A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2018



Internal ID15546581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28422760..28469491hg38UCSC Ensembl
Outerchr17:26749778..26796509hg19UCSC Ensembl
Outerchr17:23773905..23820636hg18UCSC Ensembl
Outerchr17:23773905..23820636hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3846732
hg1946732
hg1846732
hg1746732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6714
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)nsv2018
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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