A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706072



Internal ID15096038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17716545..17849495hg38UCSC Ensembl
Innerchr17:17619859..17752809hg19UCSC Ensembl
Innerchr17:17560584..17693534hg18UCSC Ensembl
Innerchr17:17560584..17693534hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38132951
hg19132951
hg18132951
hg17132951
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522668
Supporting Variants
Samples
Known GenesMIR33B, MIR6777, RAI1, SMCR5, SREBF1, TOM1L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706072
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