A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004084



Internal ID19093301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237719928..237849470hg38UCSC Ensembl
Innerchr1:237883228..238012770hg19UCSC Ensembl
Innerchr1:235949851..236079393hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38129543
hg19129543
hg18129543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487623
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)nsv1004084
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer