A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872179



Internal ID22647118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11255062..11260292hg38UCSC Ensembl
chr2:11395188..11400418hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385231
hg195231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408384
Samples
Known GenesROCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872179
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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