A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv701n172



Internal ID22815075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57340203..57433202hg38UCSC Ensembl
chr6:57205001..57298000hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3893000
hg1993000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434992, nsv4434991
SamplesNB12, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, NB11, NB07, SMI018, MDQ025, NB09
Known GenesPRIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv701n172
Frequency
Sample Size15
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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