A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18137669



Internal ID20704709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127314035..127314491hg38UCSC Ensembl
chr6:127635180..127635636hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6610086
Supporting Variants
Samples
Known GenesECHDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18137669
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00188


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