A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5426



Internal ID15543471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58074341..58079107hg38UCSC Ensembl
Outerchr12:58468124..58472890hg19UCSC Ensembl
Outerchr12:56754391..56759157hg18UCSC Ensembl
Outerchr12:56754391..56759157hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg387739
hg197739
hg187739
hg177739
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv728
Supporting Variants
SamplesNA19129
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)nssv5426
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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