A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6401619



Internal ID21059172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119531701..119533200hg38UCSC Ensembl
chr5:118867396..118868895hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18126357
Samples
Known GenesHSD17B4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6401619
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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