A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4998



Internal ID15549763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:129414084..129449309hg38UCSC Ensembl
Outerchr5:128749777..128785002hg19UCSC Ensembl
Outerchr5:128777676..128812901hg18UCSC Ensembl
Outerchr5:128777676..128812901hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg385772
hg195772
hg185772
hg175772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv495
SamplesNA19240
Known Genes
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)nsv4998
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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