A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207



Internal ID15548893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5562258..5594118hg38UCSC Ensembl
Outerchr4:5563985..5595845hg19UCSC Ensembl
Outerchr4:5614886..5646746hg18UCSC Ensembl
Outerchr4:5682057..5713917hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387651
hg197651
hg187651
hg177651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10391
SamplesNA18956
Known GenesEVC2
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)nsv4207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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