A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230881



Internal ID20797921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25240953..26330257hg38UCSC Ensembl
chr6:25241181..26330485hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg381089305
hg191089305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402318
Supporting Variants
Samples
Known GenesHFE, HIST1H1A, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AC, HIST1H2AD, HIST1H2AE, HIST1H2APS1, HIST1H2BA, HIST1H2BB, HIST1H2BC, HIST1H2BD, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H2BH, HIST1H2BI, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H4A, HIST1H4B, HIST1H4C, HIST1H4D, HIST1H4E, HIST1H4F, HIST1H4G, HIST1H4H, LRRC16A, SCGN, SLC17A1, SLC17A2, SLC17A3, SLC17A4, TRIM38
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230881
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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