A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458833



Internal ID15172212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55466542..55521721hg38UCSC Ensembl
Innerchr19:55977909..56033088hg19UCSC Ensembl
Innerchr19:60669721..60724900hg18UCSC Ensembl
Innerchr19:60669721..60724900hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855180
hg1955180
hg1855180
hg1755180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535716
SamplesNINDS_69
Known GenesNAT14, SSC5D, ZNF628
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)nsv458833
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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