A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4005



Internal ID15192046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2508261..2543240hg38UCSC Ensembl
Outerchr12:2617427..2652406hg19UCSC Ensembl
Outerchr12:2487688..2522667hg18UCSC Ensembl
Outerchr12:2487688..2522667hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384719
hg194719
hg184719
hg174719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576
Supporting Variants
SamplesNA12878
Known GenesCACNA1C
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)nssv4005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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