A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869290



Internal ID22644225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46610674..46617767hg38UCSC Ensembl
chr2:46837813..46844906hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387094
hg197094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404365
Samples
Known GenesCRIPT, PIGF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869290
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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