A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4379



Internal ID15202396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70583848..70617650hg38UCSC Ensembl
Outerchr4:71449565..71483367hg19UCSC Ensembl
Outerchr4:71484154..71517956hg18UCSC Ensembl
Outerchr4:71630325..71664127hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385484
hg195484
hg185484
hg175484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4751
SamplesNA19129
Known GenesAMBN
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)nsv4379
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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