A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2684



Internal ID15200561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37203356..37236290hg38UCSC Ensembl
Outerchr2:37430499..37463433hg19UCSC Ensembl
Outerchr2:37284003..37316937hg18UCSC Ensembl
Outerchr2:37342150..37375084hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg388776
hg198776
hg188776
hg178776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7485, nssv4412
SamplesNA12156, NA12878
Known GenesCEBPZ, CEBPZ-AS1, NDUFAF7
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)nsv2684
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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