A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4006



Internal ID15548672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:131320353..131352201hg38UCSC Ensembl
Outerchr3:131039197..131071045hg19UCSC Ensembl
Outerchr3:132521887..132553735hg18UCSC Ensembl
Outerchr3:132521895..132553743hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg386427
hg196427
hg186427
hg176427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4682
SamplesNA19129
Known GenesLOC339874, NEK11
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)nsv4006
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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