A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18149088



Internal ID20716128
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 StatusS
Merged Variantsnsv6401614
Supporting Variants
Samples
Known GenesGJB7, SMIM8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18149088
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0279


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