A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6404091



Internal ID21061644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128161032..128161574hg38UCSC Ensembl
chr5:127496724..127497266hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125246
Samples
Known GenesSLC12A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6404091
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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