A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4638



Internal ID15202681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:185430219..185464782hg38UCSC Ensembl
Outerchr4:186351373..186385936hg19UCSC Ensembl
Outerchr4:186588367..186622930hg18UCSC Ensembl
Outerchr4:186726522..186761085hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385461
hg195461
hg185461
hg175461
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3142
SamplesNA18555
Known GenesC4orf47, CCDC110
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)nsv4638
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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