A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524642



Internal ID18476237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76800198..76830761hg38UCSC Ensembl
Innerchr12:77193978..77224541hg19UCSC Ensembl
Innerchr12:75718109..75748672hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3830564
hg1930564
hg1830564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047333
Supporting Variants
Samples
Known GenesZDHHC17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524642
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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