A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877708



Internal ID22652672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6985630..6985889hg38UCSC Ensembl
chr2:7125761..7126020hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408699
Samples
Known GenesRNF144A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877708
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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