A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133627



Internal ID18905801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:14126969..14129569hg38UCSC Ensembl
Outerchr6:14127200..14129800hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969190
SamplesKWS2
Known GenesCD83
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133627
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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