A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013771



Internal ID18756303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237064443..237163179hg38UCSC Ensembl
Innerchr1:237227743..237326479hg19UCSC Ensembl
Innerchr1:235294366..235393102hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3898737
hg1998737
hg1898737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495202
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)nsv1013771
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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