A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549626



Internal ID16337035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248177298..248384644hg38UCSC Ensembl
Innerchr1:248340600..248547945hg19UCSC Ensembl
Innerchr1:246407223..246614568hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38207347
hg19207346
hg18207346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739734
Samples
Known GenesOR14C36, OR2M2, OR2M3, OR2M4, OR2M7, OR2T12, OR2T33, OR2T4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549626
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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