A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323295



Internal ID20856412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54627419..54770539hg38UCSC Ensembl
chr1:55093092..55236212hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38143121
hg19143121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201483
Samples
Known GenesACOT11, MROH7, MROH7-TTC4, PARS2, TTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323295
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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