A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704396



Internal ID15441048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:24627625..24722071hg38UCSC Ensembl
Innerchr18:22207589..22302035hg19UCSC Ensembl
Innerchr18:20461587..20556033hg18UCSC Ensembl
Innerchr18:20461587..20556033hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3894447
hg1994447
hg1894447
hg1794447
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527893
Supporting Variants
Samples
Known GenesLOC729950
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704396
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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