A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342988



Internal ID21000541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144103934..144116688hg38UCSC Ensembl
chr2:144861501..144874255hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3812755
hg1912755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18078116
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342988
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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