A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140895



Internal ID340089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69533807..69684903hg38UCSC Ensembl
chr5:68829634..68980730hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38151097
hg19151097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv403n206
Supporting Variantsnssv16967424
Samples
Known GenesGTF2H2C, GTF2H2D, GUSBP3, LOC100272216, OCLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140895
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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