A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1054



Internal ID15198292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2226475..2261410hg38UCSC Ensembl
Outerchr12:2335641..2370576hg19UCSC Ensembl
Outerchr12:2205902..2240837hg18UCSC Ensembl
Outerchr12:2205902..2240837hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385872
hg195872
hg185872
hg175872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575
Supporting Variants
SamplesNA19240
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)nssv1054
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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