A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1671970



Internal ID15155051
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv443003
Supporting Variants
SamplesNA09948
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
Comments
ReferenceYoung_et_al_2008
Pubmed ID18674749
Accession Number(s)nssv1671970
Frequency
Sample Size52
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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