A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4129



Internal ID15548807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:176253966..176288913hg38UCSC Ensembl
Outerchr3:175971754..176006701hg19UCSC Ensembl
Outerchr3:177454448..177489395hg18UCSC Ensembl
Outerchr3:177454456..177489403hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg386036
hg196036
hg186036
hg176036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv351
SamplesNA19240
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)nsv4129
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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