A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876244



Internal ID22651204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61151042..61152637hg38UCSC Ensembl
chr2:61378177..61379772hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391362
Samples
Known GenesC2orf74
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876244
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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