A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578



Internal ID15203937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2553134..2574859hg38UCSC Ensembl
Outerchr12:2662300..2684025hg19UCSC Ensembl
Outerchr12:2532561..2554286hg18UCSC Ensembl
Outerchr12:2532561..2554286hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386383
hg196383
hg186383
hg176383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8987
SamplesNA12156
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)nsv578
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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