A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1671905



Internal ID15155057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248521647..248522597hg38UCSC Ensembl
Innerchr1:248684948..248685898hg19UCSC Ensembl
Innerchr1:246751571..246752521hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442997
Supporting Variants
SamplesNA10471
Known GenesOR2G6
MethodMLPA
AnalysisWe used MLPA to identify presumed duplications as compared to a 0x00E20x20AC0x02DC0x00E20x20AC0x02DCnormal0x00E20x20AC0x21220x00E20x20AC0x2122 diploid genome.
PlatformNot reported
Comments
ReferenceYoung_et_al_2008
Pubmed ID18674749
Accession Number(s)nssv1671905
Frequency
Sample Size52
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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