A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994276



Internal ID63640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27657057..27658177hg38UCSC Ensembl
chr7:27696676..27697796hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476724
Supporting Variants
Samples
Known GenesHIBADH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994276
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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