A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141917



Internal ID341116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127619645..127621726hg38UCSC Ensembl
chr9:130381924..130384005hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382082
hg192082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027225
Samples
Known GenesSTXBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141917
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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