A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4147



Internal ID15548827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184431472..184467716hg38UCSC Ensembl
Outerchr3:184149260..184185504hg19UCSC Ensembl
Outerchr3:185631954..185668198hg18UCSC Ensembl
Outerchr3:185631962..185668206hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg385701
hg195701
hg185701
hg175701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3218, nssv7902, nssv9876, nssv2434
SamplesNA18507, NA12156, NA12878, NA18555
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)nsv4147
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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