A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000707



Internal ID18743238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237019112..237359712hg38UCSC Ensembl
Innerchr1:237182412..237523012hg19UCSC Ensembl
Innerchr1:235249035..235589635hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38340601
hg19340601
hg18340601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485044
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)nsv1000707
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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