A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2748



Internal ID15547311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60812073..60830009hg38UCSC Ensembl
Outerchr2:61039208..61057144hg19UCSC Ensembl
Outerchr2:60892712..60910648hg18UCSC Ensembl
Outerchr2:60950859..60968795hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg386515
hg196515
hg186515
hg176515
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7500
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)nsv2748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer