A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407538



Internal ID22465408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73625838..73686171hg38UCSC Ensembl
chr2:73852965..73913298hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3860334
hg1960334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870941
Supporting Variants
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407538
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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