A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458713



Internal ID15518778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46143679..46263722hg38UCSC Ensembl
Innerchr19:46646936..46766979hg19UCSC Ensembl
Innerchr19:51338776..51458819hg18UCSC Ensembl
Innerchr19:51338776..51458819hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38120044
hg19120044
hg18120044
hg17120044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535624
SamplesHGDP01182
Known GenesDKFZp434J0226, IGFL1, IGFL2, 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)nsv458713
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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