A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869248



Internal ID22644183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54582624..54789779hg38UCSC Ensembl
chr1:55048297..55255452hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38207156
hg19207156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385230
Samples
Known GenesACOT11, FAM151A, MROH7, MROH7-TTC4, PARS2, TTC22, TTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869248
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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