A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458711



Internal ID8485758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45323108..45408744hg38UCSC Ensembl
Innerchr19:45826366..45912002hg19UCSC Ensembl
Innerchr19:50518206..50603842hg18UCSC Ensembl
Innerchr19:50518206..50603842hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3885637
hg1985637
hg1885637
hg1785637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535623
SamplesNINDS_116
Known GenesCD3EAP, ERCC1, ERCC2, KLC3, PPP1R13L
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)nsv458711
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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