A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943835



Internal ID22719290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8888335..9169886hg38UCSC Ensembl
chr18:8888333..9169884hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38281552
hg19281552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396860
Samples
Known GenesANKRD12, NDUFV2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943835
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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