A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv443003



Internal ID15155193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55597042..55690279hg38UCSC Ensembl
chr11:55364518..55457755hg19UCSC Ensembl
chr11:55121094..55214331hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3893238
hg1993238
hg1893238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1671971, nssv1671981, nssv1671962, nssv1671964, nssv1671978, nssv1671963, nssv1671974, nssv1671972, nssv1671966, nssv1671968, nssv1671957, nssv1671979, nssv1671975, nssv1671977, nssv1671960, nssv1671976, nssv1671970, nssv1671980, nssv1671982, nssv1671969, nssv1671967, nssv1671965, nssv1671973, nssv1671961, nssv1671983
SamplesNA10540, NA17040, NA11373, NA10965, NA10976, NA10542, NA10473, NA11523, NA10539, NA01806, NA10968, NA10978, NA10975, NA10969, NA11524, NA17033, NA09948, NA01805, NA17036, NA01814, NA10534, NA10541, NA11522, NA10979, NA10543
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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
CommentsFosmids AC193142 and AC210900 contain complex alternate structure, with four deletions and with inversions
ReferenceYoung_et_al_2008
Pubmed ID18674749
Accession Number(s)nsv443003
Frequency
Sample Size52
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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