A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5307



Internal ID15203417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54009320..54087432hg38UCSC Ensembl
Outerchr6:53874118..53952230hg19UCSC Ensembl
Outerchr6:53982077..54060189hg18UCSC Ensembl
Outerchr6:53982077..54060189hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3878113
hg1978113
hg1878113
hg1778113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6066, nssv4916, nssv10500, nssv3439
SamplesNA12156, NA12878, NA18956, NA19129
Known GenesMLIP
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)nsv5307
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer