A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187



Internal ID15201085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13665844..13711151hg38UCSC Ensembl
Outerchr1:13992339..14037646hg19UCSC Ensembl
Outerchr1:13864926..13910233hg18UCSC Ensembl
Outerchr1:13737645..13782952hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3845308
hg1945308
hg1845308
hg1745308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7852
SamplesNA12156
Known GenesPRDM2
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)nsv3187
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