A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977824



Internal ID19239490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126800455..126804555hg38UCSC Ensembl
Outerchr8:127812700..127816800hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125019
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977824
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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