A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458343



Internal ID15171722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6901880..7112582hg38UCSC Ensembl
Innerchr19:6901891..7112593hg19UCSC Ensembl
Innerchr19:6852891..7063593hg18UCSC Ensembl
Innerchr19:6852891..7063593hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38210703
hg19210703
hg18210703
hg17210703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv393n27
Supporting Variantsnssv535286
SamplesNINDS_236
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
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)nsv458343
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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