A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10340



Internal ID15195772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12877328..13084158hg38UCSC Ensembl
Outerchr1:12937149..13151621hg19UCSC Ensembl
Outerchr1:12859736..13074208hg18UCSC Ensembl
Outerchr1:12871415..12975604hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38206831
hg19214473
hg18214473
hg17104190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2965
Supporting Variants
SamplesNA18956
Known GenesPRAMEF10, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv10340
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