A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4401



Internal ID15549107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:80431124..80464868hg38UCSC Ensembl
Outerchr4:81352278..81386022hg19UCSC Ensembl
Outerchr4:81571302..81605046hg18UCSC Ensembl
Outerchr4:81709457..81743201hg17UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg385543
hg195543
hg185543
hg175543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4758
SamplesNA19129
Known GenesC4orf22
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)nsv4401
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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