A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549691



Internal ID15990414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248586905..248631809hg38UCSC Ensembl
Innerchr1:248750206..248795110hg19UCSC Ensembl
Innerchr1:246816829..246861733hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844905
hg1944905
hg1844905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv918n54
Supporting Variantsnssv739983, nssv739970, nssv739985, nssv739967, nssv739982, nssv739963, nssv739981, nssv739966, nssv739980, nssv739969, nssv739965, nssv739984, nssv739978, nssv739976, nssv739975, nssv739972, nssv739973, nssv739968, nssv739962, nssv739977, nssv739964, nssv739971, nssv739974, nssv739979
Samples
Known GenesOR2T10, OR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549691
Frequency
Sample Size17421
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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