A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4004



Internal ID15192045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2253458..2261480hg38UCSC Ensembl
Outerchr12:2362624..2370646hg19UCSC Ensembl
Outerchr12:2232885..2240907hg18UCSC Ensembl
Outerchr12:2232885..2240907hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385153
hg195153
hg185153
hg175153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575
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)nssv4004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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