A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462008



Internal ID239947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136477124..136519109hg38UCSC Ensembl
chr6:136798262..136840247hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3841986
hg1941986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970106
Samples
Known GenesMAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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