A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18090376



Internal ID20657416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74222342..74222867hg38UCSC Ensembl
chr2:74449469..74449994hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343084
Supporting Variants
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18090376
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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