A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978268



Internal ID19228535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23645087..23650687hg38UCSC Ensembl
Outerchr8:23502600..23508200hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139932
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978268
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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