A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344527



Internal ID21002080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143963419..143963894hg38UCSC Ensembl
chr2:144720986..144721461hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18078103
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344527
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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