A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2506



Internal ID15540618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7102817..7133447hg38UCSC Ensembl
Outerchr5:7102930..7133560hg19UCSC Ensembl
Outerchr5:7155930..7186560hg18UCSC Ensembl
Outerchr5:7155930..7186560hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg389393
hg199393
hg189393
hg179393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4702
Supporting Variants
SamplesNA18555
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)nssv2506
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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