A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058259



Internal ID19147478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56184913..56211378hg38UCSC Ensembl
Innerchr19:56696282..56722747hg19UCSC Ensembl
Innerchr19:61388094..61414559hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3826466
hg1926466
hg1826466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3682n100
Supporting Variantsnssv3570444
Samples
Known GenesGALP, ZSCAN5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058259
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