A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132324



Internal ID18918240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:237055800..237057000hg38UCSC Ensembl
Outerchr1:237219100..237220300hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987095
SamplesKWS1
Known GenesRYR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132324
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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