A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4488



Internal ID8516184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119105961..119141003hg38UCSC Ensembl
Outerchr4:120027116..120062158hg19UCSC Ensembl
Outerchr4:120246564..120281606hg18UCSC Ensembl
Outerchr4:120384719..120419761hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg385942
hg195942
hg185942
hg175942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv410
SamplesNA19240
Known GenesMYOZ2
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)nsv4488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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