A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535501



Internal ID15503744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42779968..43089269hg38UCSC Ensembl
Innerchr19:43284120..43593421hg19UCSC Ensembl
Innerchr19:47975960..48285261hg18UCSC Ensembl
Innerchr19:47975960..48285261hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38309302
hg19309302
hg18309302
hg17309302
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458589
Supporting Variants
Samples1780862408_A
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv535501
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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