A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881729



Internal ID22656705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73644025..73703714hg38UCSC Ensembl
chr2:73871152..73930841hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3859690
hg1959690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408508
Samples
Known GenesALMS1P, NAT8B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881729
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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