A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985134



Internal ID19224570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:105317872..105318472hg38UCSC Ensembl
Outerchr8:106330100..106330700hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126858
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985134
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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