A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001630



Internal ID16947896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:237070201..237076200hg38UCSC Ensembl
Outerchr1:237233501..237239500hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954001
Supporting Variants
SamplesBILGI_BIOE
Known GenesRYR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001630
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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