A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468



Internal ID15544756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:50390529..50424602hg38UCSC Ensembl
Outerchr5:49686363..49720436hg19UCSC Ensembl
Outerchr5:49722120..49756193hg18UCSC Ensembl
Outerchr5:49722120..49756193hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg386929
hg196929
hg186929
hg176929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4819
Supporting Variants
SamplesNA19240
Known GenesEMB
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)nssv468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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