A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv443001



Internal ID15501877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5763345..5788053hg38UCSC Ensembl
chr11:5784575..5809283hg19UCSC Ensembl
chr11:5741151..5765859hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824709
hg1924709
hg1824709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1671937, nssv1671933, nssv1671955, nssv1671936, nssv1671944, nssv1671935, nssv1671943, nssv1671945, nssv1671929, nssv1671947, nssv1671938, nssv1671946, nssv1671940, nssv1671950, nssv1671949, nssv1671942, nssv1671941, nssv1671939, nssv1671930, nssv1671948
SamplesNA11525, NA17040, NA10966, NA11373, NA17032, NA10470, NA10471, NA17031, NA01953, NA10541, NA17035, NA10967, NA10968, NA17039, NA10978, NA17033, NA00893, NA10965, NA17036, NA11375
Known GenesOR52N1, OR52N5
MethodSequencing
AnalysisWe used each of the 4121 OR sequences identified from alternative genomic- sequence sources as BLAST queries against the set of ORs that we identified from the Build 36.1 reference genome assembly, and we performed simple filtering of BLAST results to determine that 47 of the alternative-source ORs did not have a match of at least 98% nucleotide identity over at least 95% of the length of the shorter of the two matching sequences and were thus candidate copy-number-variable ORs.
PlatformNot reported
Comments24.7-kb deletion (fosmid AC193144) removes OR56B2, OR52N5 and half of OR52N1
ReferenceYoung_et_al_2008
Pubmed ID18674749
Accession Number(s)nsv443001
Frequency
Sample Size52
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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