A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113639



Internal ID21468511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74220625..74220948hg38UCSC Ensembl
chr2:74447752..74448075hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5571891
Supporting Variants
SamplesHG03125
Known GenesSLC4A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113639
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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