A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17444227



Internal ID22502097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149210479..149210540hg38UCSC Ensembl
chr7:148907571..148907632hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5923158
Supporting Variants
Samples
Known GenesZNF282
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17444227
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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