A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3320n106



Internal ID20162677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57340402..57432202hg38UCSC Ensembl
chr6:57205200..57297000hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3891801
hg1991801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128925, nsv1124939
SamplesKWS2, KWS1
Known GenesPRIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3320n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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