A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4597



Internal ID15549322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:169019880..169051802hg38UCSC Ensembl
Outerchr4:169941031..169972953hg19UCSC Ensembl
Outerchr4:170177606..170209528hg18UCSC Ensembl
Outerchr4:170315761..170347683hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg387798
hg197798
hg187798
hg177798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3303
SamplesNA12878
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)nsv4597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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