A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344738



Internal ID21002291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215009601..215011000hg38UCSC Ensembl
chr2:215874325..215875724hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083455
Samples
Known GenesABCA12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344738
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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