A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424230



Internal ID22482100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168472239..168476949hg38UCSC Ensembl
chr6:168872919..168877629hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384711
hg194711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921256
Supporting Variants
Samples
Known GenesSMOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424230
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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