A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535293



Internal ID15157797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8483291..8532981hg38UCSC Ensembl
Innerchr19:8548175..8597865hg19UCSC Ensembl
Innerchr19:8454175..8503865hg18UCSC Ensembl
Innerchr19:8454175..8503865hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3849691
hg1949691
hg1849691
hg1749691
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458350
Supporting Variants
Samples1782681247_A
Known GenesHNRNPM, MYO1F, PRAM1, ZNF414
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)nssv535293
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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