A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001816



Internal ID18744347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121413668..121602283hg38UCSC Ensembl
Innerchr1:121155528..121344081hg19UCSC Ensembl
Innerchr1:120857051..121045604hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38188616
hg19188554
hg18188554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308n100
Supporting Variantsnssv3496230, nssv3702069, nssv3494692
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001816
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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