A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321189



Internal ID20854292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228336437..228544098hg38UCSC Ensembl
chr1:228524138..228731799hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38207662
hg19207662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202728
Samples
Known GenesHIST3H2A, HIST3H2BB, HIST3H3, MIR4666A, MIR6742, OBSCN, RNF187, TRIM11, TRIM17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321189
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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