A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751546



Internal ID20527406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74330837..74330837hg38UCSC Ensembl
chr2:74557964..74557964hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261252
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751546
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer