A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395346



Internal ID22453216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74273458..74273690hg38UCSC Ensembl
chr2:74500585..74500817hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874293
Supporting Variants
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395346
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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