A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535297



Internal ID15156816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8504851..8564616hg38UCSC Ensembl
Innerchr19:8569735..8629500hg19UCSC Ensembl
Innerchr19:8475735..8535500hg18UCSC Ensembl
Innerchr19:8475735..8535500hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3859766
hg1959766
hg1859766
hg1759766
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458354
Supporting Variants
Samples1780862306_A
Known GenesMYO1F, ZNF414
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)nssv535297
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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