A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063949



Internal ID19153168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53420667..53511924hg38UCSC Ensembl
Innerchr19:53923920..54015178hg19UCSC Ensembl
Innerchr19:58615732..58706990hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3891258
hg1991259
hg1891259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3648n100
Supporting Variantsnssv3573248
Samples
Known GenesTPM3P9, ZNF761, ZNF813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063949
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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