A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6395631



Internal ID21053184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127383420..127389957hg38UCSC Ensembl
chr5:126719112..126725649hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386538
hg196538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18124609
Samples
Known GenesMEGF10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6395631
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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