A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1090



Internal ID15198033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58956580..58973579hg38UCSC Ensembl
Outerchr12:59350361..59367360hg19UCSC Ensembl
Outerchr12:57636628..57653627hg18UCSC Ensembl
Outerchr12:57636628..57653627hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg386572
hg196572
hg186572
hg176572
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv733
Supporting Variants
SamplesNA19240
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)nssv1090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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