A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485389



Internal ID18726344
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 StatusS
Merged Variantsnsv998933
Supporting Variants
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)nssv3485389
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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