A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066389



Internal ID18808920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50319151..50453251hg38UCSC Ensembl
Innerchr19:50822408..50956508hg19UCSC Ensembl
Innerchr19:55514220..55648320hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38134101
hg19134101
hg18134101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3574993
Samples
Known GenesKCNC3, MYBPC2, NAPSA, NAPSB, NR1H2, POLD1, SPIB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066389
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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