A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010551



Internal ID18753082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121426988..121581620hg38UCSC Ensembl
Innerchr1:121168848..121323418hg19UCSC Ensembl
Innerchr1:120870371..121024941hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38154633
hg19154571
hg18154571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308n100
Supporting Variantsnssv3495907, nssv3501313, nssv3493517
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)nsv1010551
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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