A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877717



Internal ID22652681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2000183..2000249hg38UCSC Ensembl
chr2:2003955..2004021hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400503
Samples
Known GenesMYT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877717
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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