A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1252



Internal ID15545815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:41200835..41246433hg38UCSC Ensembl
Outerchr14:41670038..41715636hg19UCSC Ensembl
Outerchr14:40739788..40785386hg18UCSC Ensembl
Outerchr14:40739788..40785386hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3845599
hg1945599
hg1845599
hg1745599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6591
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)nsv1252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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