A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573



Internal ID15203882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1451001..1495373hg38UCSC Ensembl
Outerchr12:1560167..1604539hg19UCSC Ensembl
Outerchr12:1430428..1474800hg18UCSC Ensembl
Outerchr12:1430428..1474800hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3844373
hg1944373
hg1844373
hg1744373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1973
SamplesNA18555
Known GenesERC1
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)nsv573
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