A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3501785



Internal ID18453380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217815247..218302997hg38UCSC Ensembl
Innerchr1:217988589..218476339hg19UCSC Ensembl
Innerchr1:216055212..216542962hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38487751
hg19487751
hg18487751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005829
Supporting Variants
Samples
Known GenesLINC00210, RRP15, SPATA17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3501785
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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