A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139930



Internal ID19273289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12122091..12190391hg38UCSC Ensembl
Outerchr8:11979600..12047900hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3868301
hg1968301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978266
SamplesKWS2
Known GenesFAM66D, FAM86B1, FAM90A2P, LOC392196, USP17L2, USP17L7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139930
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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