A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458715



Internal ID15172094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47793971..47890785hg38UCSC Ensembl
Innerchr19:48297228..48394042hg19UCSC Ensembl
Innerchr19:52989040..53085854hg18UCSC Ensembl
Innerchr19:52989040..53085854hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3896815
hg1996815
hg1896815
hg1796815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535626
SamplesNINDS_203
Known GenesCRX, SULT2A1, TPRX1
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)nsv458715
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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