A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3685



Internal ID15548319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:6403000..6434622hg38UCSC Ensembl
Outerchr3:6444687..6476309hg19UCSC Ensembl
Outerchr3:6419687..6451309hg18UCSC Ensembl
Outerchr3:6419687..6451309hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg388127
hg198127
hg188127
hg178127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4595
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)nsv3685
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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