A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9838



Internal ID15539905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58064569..58087687hg38UCSC Ensembl
Outerchr12:58458352..58481470hg19UCSC Ensembl
Outerchr12:56744619..56767737hg18UCSC Ensembl
Outerchr12:56744619..56767737hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3812236
hg1912236
hg1812236
hg1712236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv728
Supporting Variants
SamplesNA18507
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)nssv9838
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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