A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126002



Internal ID20693042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139953401..139954600hg38UCSC Ensembl
chr5:139332986..139334185hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403649
Supporting Variants
Samples
Known GenesNRG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126002
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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