A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5434



Internal ID15543323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70035990..70069211hg38UCSC Ensembl
Outerchr12:70429770..70462991hg19UCSC Ensembl
Outerchr12:68716037..68749258hg18UCSC Ensembl
Outerchr12:68716037..68749258hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386056
hg196056
hg186056
hg176056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv762
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)nssv5434
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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