A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692477



Internal ID15082443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2600507..2695079hg38UCSC Ensembl
Innerchr7:2640141..2734713hg19UCSC Ensembl
Innerchr7:2606667..2701239hg18UCSC Ensembl
Innerchr7:2413382..2507954hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3894573
hg1994573
hg1894573
hg1794573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517403
Supporting Variants
Samples
Known GenesAMZ1, IQCE, TTYH3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692477
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