A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123243



Internal ID19269344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:116429650..116429969hg38UCSC Ensembl
Outerchr6:116750813..116751132hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3368n106
Supporting Variantsnssv3972243
SamplesKWS1
Known GenesDSE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123243
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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