A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449358



Internal ID22507228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42957850..43031425hg38UCSC Ensembl
chr6:42925588..42999163hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3873576
hg1973576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899267
Supporting Variants
Samples
Known GenesGNMT, KLHDC3, MEA1, PEX6, PPP2R5D, RRP36
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449358
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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