A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4613



Internal ID15202654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:176668312..176699170hg38UCSC Ensembl
Outerchr4:177589463..177620324hg19UCSC Ensembl
Outerchr4:177826457..177857318hg18UCSC Ensembl
Outerchr4:177964612..177995473hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg388830
hg198830
hg188830
hg178830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3307
SamplesNA12878
Known GenesVEGFC
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)nsv4613
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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