A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458325



Internal ID15171704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2043272..2078489hg38UCSC Ensembl
Innerchr19:2043271..2078488hg19UCSC Ensembl
Innerchr19:1994271..2029488hg18UCSC Ensembl
Innerchr19:1994271..2029488hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3835218
hg1935218
hg1835218
hg1735218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535276
Samples1780862229_A
Known GenesMKNK2, MOB3A
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)nsv458325
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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