A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959423



Internal ID19218216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:237600700..237604900hg38UCSC Ensembl
Outerchr1:237764000..237768200hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110156
Supporting Variants
SamplesKWS1
Known GenesRYR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959423
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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