A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485701



Internal ID18726656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243144352..243222557hg38UCSC Ensembl
Innerchr1:243307654..243385859hg19UCSC Ensembl
Innerchr1:241374277..241452482hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3878206
hg1978206
hg1878206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001378
Supporting Variants
Samples
Known GenesCEP170
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485701
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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