A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535650



Internal ID15165695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52799228..52921071hg38UCSC Ensembl
Innerchr19:53302481..53424324hg19UCSC Ensembl
Innerchr19:57994293..58116136hg18UCSC Ensembl
Innerchr19:57994293..58116136hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38121844
hg19121844
hg18121844
hg17121844
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458747
Supporting Variants
SamplesNINDS_240
Known GenesZNF28, ZNF320, ZNF468
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)nssv535650
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