A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347221



Internal ID21004774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157541199..157541817hg38UCSC Ensembl
chr2:158397711..158398329hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079801
Samples
Known GenesACVR1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347221
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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