A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870773



Internal ID22645709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74330784..74331276hg38UCSC Ensembl
chr2:74557911..74558403hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1149n209
Supporting Variantsnssv17397795
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870773
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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