A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458714



Internal ID15518779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46190005..46279349hg38UCSC Ensembl
Innerchr19:46693262..46782606hg19UCSC Ensembl
Innerchr19:51385102..51474446hg18UCSC Ensembl
Innerchr19:51385102..51474446hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3889345
hg1989345
hg1889345
hg1789345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535625
SamplesNINDS_133
Known GenesDKFZp434J0226, IGFL1, RNU6-66P
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)nsv458714
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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