A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583



Internal ID15550678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3974145..3993889hg38UCSC Ensembl
Outerchr12:4083311..4103055hg19UCSC Ensembl
Outerchr12:3953572..3973316hg18UCSC Ensembl
Outerchr12:3953572..3973316hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg387320
hg197320
hg187320
hg177320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4008
SamplesNA12878
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)nsv583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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