A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18157011



Internal ID20724051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27198301..27200900hg38UCSC Ensembl
chr7:27237920..27240519hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6605294
Supporting Variants
Samples
Known GenesHOTTIP, HOXA13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18157011
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01436


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