A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439287



Internal ID22497157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48726905..48727168hg38UCSC Ensembl
chr8:49639464..49639727hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917652
Supporting Variants
Samples
Known GenesEFCAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439287
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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