A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006191



Internal ID19095409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237369402..237553270hg38UCSC Ensembl
Innerchr1:237532702..237716570hg19UCSC Ensembl
Innerchr1:235599325..235783193hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38183869
hg19183869
hg18183869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3486675
Samples
Known GenesRYR2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006191
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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