A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2101n106



Internal ID20161458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178757146..178757211hg38UCSC Ensembl
chr2:179621873..179621938hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1142973, nsv1129649
SamplesKWS2, KWS1
Known GenesTTN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2101n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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