A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893020



Internal ID22668077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202455803..202473843hg38UCSC Ensembl
chr2:203320526..203338566hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3818041
hg1918041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395929
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893020
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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