A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2567



Internal ID15200444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1408825..1442337hg38UCSC Ensembl
Outerchr2:1412597..1446109hg19UCSC Ensembl
Outerchr2:1391604..1425116hg18UCSC Ensembl
Outerchr2:1391604..1425116hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg385927
hg195927
hg185927
hg175927
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7456
SamplesNA12156
Known GenesTPO
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)nsv2567
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