A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994866



Internal ID18862814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43455262..43455762hg38UCSC Ensembl
Outerchr6:43423000..43423500hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144143
Supporting Variants
SamplesKWS1
Known GenesDLK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994866
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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