A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4693



Internal ID15549428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6007592..6041603hg38UCSC Ensembl
Outerchr5:6007705..6041716hg19UCSC Ensembl
Outerchr5:6060705..6094716hg18UCSC Ensembl
Outerchr5:6060705..6094716hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg386003
hg196003
hg186003
hg176003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3149
SamplesNA18555
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)nsv4693
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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