A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4960



Internal ID15203036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:112864502..112882602hg38UCSC Ensembl
Outerchr5:112200199..112218299hg19UCSC Ensembl
Outerchr5:112228098..112246198hg18UCSC Ensembl
Outerchr5:112228098..112246198hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3818101
hg1918101
hg1818101
hg1718101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8135
SamplesNA12156
Known GenesREEP5, SRP19
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)nsv4960
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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