A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992747



Internal ID62629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16208039..16291343hg38UCSC Ensembl
chr7:16247664..16330968hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3883305
hg1983305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471949
Supporting Variants
Samples
Known GenesISPD, ISPD-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992747
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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