A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471949



Internal ID249672
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 StatusM
Merged Variants
Supporting Variantsnssv16992747
Samples
Known GenesISPD, ISPD-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471949
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer