A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18235205



Internal ID20802245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27753532..28002885hg38UCSC Ensembl
chr6:27721311..27970663hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38249354
hg19249353
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400159
Supporting Variants
Samples
Known GenesHIST1H1B, HIST1H2AI, HIST1H2AJ, HIST1H2AK, HIST1H2AL, HIST1H2AM, HIST1H2BL, HIST1H2BM, HIST1H2BN, HIST1H2BO, HIST1H3H, HIST1H3I, HIST1H3J, HIST1H4J, HIST1H4K, HIST1H4L, LOC100131289, OR2B2, OR2B6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18235205
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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