A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2401



Internal ID15200278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8258600..8320660hg38UCSC Ensembl
Outerchr19:8323484..8385544hg19UCSC Ensembl
Outerchr19:8229484..8291544hg18UCSC Ensembl
Outerchr19:8229484..8291544hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3862061
hg1962061
hg1862061
hg1762061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1432, nssv10174, nssv9333, nssv9853, nssv2206, nssv10987, nssv5721, nssv6768, nssv4339
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesCD320, CERS4, NDUFA7
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)nsv2401
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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