A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3323n106



Internal ID19021432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57436702..60348451hg38UCSC Ensembl
chr6:57301500..57320300hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg382911750
hg1918801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132626, nsv1124940
SamplesKWS1, KWS2
Known GenesPRIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3323n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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