A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128976



Internal ID19264922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61996241..62000041hg38UCSC Ensembl
Outerchr8:62908800..62912600hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3834n106
Supporting Variantsnssv3961647
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128976
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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