A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1321



Internal ID15545884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69335355..69381171hg38UCSC Ensembl
Outerchr1:69801038..69846854hg19UCSC Ensembl
Outerchr1:69573626..69619442hg18UCSC Ensembl
Outerchr1:69513059..69558875hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3845817
hg1945817
hg1845817
hg1745817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6648
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)nsv1321
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