A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889199



Internal ID22664214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201221830..201227568hg38UCSC Ensembl
chr2:202086553..202092291hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385739
hg195739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408148
Samples
Known GenesCASP10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889199
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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