A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871546



Internal ID22646484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56790074..56794954hg38UCSC Ensembl
chr1:57255747..57260627hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg384881
hg194881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369719
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871546
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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