A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983440



Internal ID18894005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:124309870..124309930hg38UCSC Ensembl
Outerchr8:125322111..125322171hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125269
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983440
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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