A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4327



Internal ID15202339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47530564..47555968hg38UCSC Ensembl
Outerchr4:47532581..47557985hg19UCSC Ensembl
Outerchr4:47227338..47252742hg18UCSC Ensembl
Outerchr4:47373509..47398913hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg386377
hg196377
hg186377
hg176377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10404
SamplesNA18956
Known GenesATP10D
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)nsv4327
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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