A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578431



Internal ID16019154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3937430..3938395hg38UCSC Ensembl
Innerchr19:3937428..3938393hg19UCSC Ensembl
Innerchr19:3888428..3889393hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38966
hg19966
hg18966
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6229n54
Supporting Variantsnssv892848, nssv892854, nssv892851, nssv892850, nssv892849, nssv892853, nssv892852
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578431
Frequency
Sample Size17421
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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