A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903708



Internal ID22678877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232708634..232708919hg38UCSC Ensembl
chr2:233573344..233573629hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396570
Samples
Known GenesGIGYF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903708
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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