A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547629



Internal ID16335038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121422747..121570001hg38UCSC Ensembl
Innerchr1:121164607..121311799hg19UCSC Ensembl
Innerchr1:120866130..121013322hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38147255
hg19147193
hg18147193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527n54
Supporting Variantsnssv1173128, nssv1173127, nssv723019, nssv723020
Samples1780862597_A, 1780854327_A
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547629
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer