A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250115



Internal ID21303797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38646657..38649458hg38UCSC Ensembl
Outerchr2:38635081..38651175hg38UCSC Ensembl
Innerchr2:38873799..38876600hg19UCSC Ensembl
Outerchr2:38862223..38878317hg19UCSC Ensembl
Innerchr2:38727303..38730104hg18UCSC Ensembl
Outerchr2:38715727..38731821hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816095
hg1916095
hg1816095
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170173
Supporting Variants
SamplesMLY_9
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250115
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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