A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232214



Internal ID20799254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2229661..2263894hg38UCSC Ensembl
chr6:2229895..2264128hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3834234
hg1934234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401332
Supporting Variants
Samples
Known GenesGMDS, GMDS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232214
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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