A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3482998



Internal ID18723953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154101773..154179941hg38UCSC Ensembl
Innerchr1:154074249..154152417hg19UCSC Ensembl
Innerchr1:152340873..152419041hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3878169
hg1978169
hg1878169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000153
Supporting Variants
Samples
Known GenesNUP210L, TPM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3482998
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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