A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998933



Internal ID18811783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227805227..227871595hg38UCSC Ensembl
Innerchr1:227992928..228059296hg19UCSC Ensembl
Innerchr1:226059551..226125919hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3866369
hg1966369
hg1866369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501577, nssv3493779, nssv3485389
Samples
Known GenesPRSS38
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998933
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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