A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486675



Internal ID19074316
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 StatusS
Merged Variantsnsv1006191
Supporting Variants
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)nssv3486675
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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