A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458752



Internal ID15172131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52833114..52880932hg38UCSC Ensembl
Innerchr19:53336367..53384185hg19UCSC Ensembl
Innerchr19:58028179..58075997hg18UCSC Ensembl
Innerchr19:58028179..58075997hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3847819
hg1947819
hg1847819
hg1747819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535655
Samples1780854465_A
Known GenesZNF320, 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)nsv458752
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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