A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875642



Internal ID22650600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73631192..73691122hg38UCSC Ensembl
chr2:73858319..73918249hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3859931
hg1959931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1148n209
Supporting Variantsnssv17403978
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875642
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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