A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16261252



Internal ID20470470
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 StatusS
Merged Variantsnsv4751546
Supporting Variants
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16261252
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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