A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578490



Internal ID16019213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7033954..7048607hg38UCSC Ensembl
Innerchr19:7033965..7048618hg19UCSC Ensembl
Innerchr19:6984965..6999618hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3814654
hg1914654
hg1814654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv893223
Samples
Known GenesMBD3L4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578490
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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