A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547861



Internal ID15988584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152536086..152580889hg38UCSC Ensembl
Innerchr1:152508562..152553365hg19UCSC Ensembl
Innerchr1:150775186..150819989hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3844804
hg1944804
hg1844804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv565n54
Supporting Variantsnssv723530, nssv723534, nssv723535, nssv723526, nssv723531, nssv723532, nssv723527, nssv723533, nssv723528, nssv723529
Samples
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547861
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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