A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4873



Internal ID15202940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73168879..73202565hg38UCSC Ensembl
Outerchr5:72464706..72498392hg19UCSC Ensembl
Outerchr5:72500462..72534148hg18UCSC Ensembl
Outerchr5:72500462..72534148hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg385754
hg195754
hg185754
hg175754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8112
SamplesNA12156
Known GenesTMEM174
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)nsv4873
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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