A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999833



Internal ID17292785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38535961..38538260hg38UCSC Ensembl
Outerchr19:39026601..39028900hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953297
Supporting Variants
SamplesBILGI_BIOE
Known GenesRYR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999833
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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