A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2769



Internal ID15547332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70348528..70381940hg38UCSC Ensembl
Outerchr2:70575660..70609072hg19UCSC Ensembl
Outerchr2:70429164..70462576hg18UCSC Ensembl
Outerchr2:70487311..70520723hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386025
hg196025
hg186025
hg176025
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7504
SamplesNA12156
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)nsv2769
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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