A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535276



Internal ID15156720
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458325
Supporting Variants
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)nssv535276
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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