A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218739



Internal ID20785779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27136039..27383176hg38UCSC Ensembl
chr7:27175658..27422795hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38247138
hg19247138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6611186
Supporting Variants
Samples
Known GenesEVX1, HOTTIP, HOXA10, HOXA10-HOXA9, HOXA11, HOXA11-AS, HOXA13, HOXA5, HOXA6, HOXA7, HOXA9, HOXA-AS3, HOXA-AS4, MIR196B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218739
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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