A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202205



Internal ID21341004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60667360..60667360hg38UCSC Ensembl
chr5:59963187..59963187hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947140
Supporting Variants
SamplesHG002
Known GenesDEPDC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202205
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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