A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002043



Internal ID68959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88044516..88045087hg38UCSC Ensembl
chr7:87673831..87674402hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489176
Supporting Variants
Samples
Known GenesADAM22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002043
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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