A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578433



Internal ID16019156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3937430..3938784hg38UCSC Ensembl
Innerchr19:3937428..3938782hg19UCSC Ensembl
Innerchr19:3888428..3889782hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381355
hg191355
hg181355
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6229n54
Supporting Variantsnssv892897, nssv892896
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578433
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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