A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347547



Internal ID21005100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144126356..144140682hg38UCSC Ensembl
chr2:144883923..144898249hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3814327
hg1914327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18078119
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347547
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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