A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004927



Internal ID19094144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121426988..121549506hg38UCSC Ensembl
Innerchr1:121168848..121291304hg19UCSC Ensembl
Innerchr1:120870371..120992827hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38122519
hg19122457
hg18122457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n100
Supporting Variantsnssv3494251, nssv3500198
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)nsv1004927
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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