A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705120



Internal ID15441772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58638859..58683970hg38UCSC Ensembl
Innerchr16:58672763..58717874hg19UCSC Ensembl
Innerchr16:57230264..57275375hg18UCSC Ensembl
Innerchr16:57230264..57275375hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3845112
hg1945112
hg1845112
hg1745112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528513
Supporting Variants
Samples
Known GenesSLC38A7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705120
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