A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571030



Internal ID21519403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87323031..87323117hg38UCSC Ensembl
chr6:88032749..88032835hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17144172
SamplesNA19239
Known GenesGJB7, SMIM8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571030
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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