A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9947



Internal ID15540037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40501926..40511407hg38UCSC Ensembl
Outerchr12:40895728..40905209hg19UCSC Ensembl
Outerchr12:39181995..39191476hg18UCSC Ensembl
Outerchr12:39181995..39191476hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388113
hg198113
hg188113
hg178113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv682
Supporting Variants
SamplesNA18507
Known GenesMUC19
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)nssv9947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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