A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1106



Internal ID15544670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95578075..95611537hg38UCSC Ensembl
Outerchr12:95971851..96005313hg19UCSC Ensembl
Outerchr12:94495982..94529444hg18UCSC Ensembl
Outerchr12:94474319..94507781hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg387534
hg197534
hg187534
hg177534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv831
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)nssv1106
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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