A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527547



Internal ID22396934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87323031..87323118hg38UCSC Ensembl
chr6:88032749..88032836hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329534
SamplesNA19239
Known GenesGJB7, SMIM8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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