A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534579



Internal ID15156598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6996257..7044206hg38UCSC Ensembl
Innerchr16:7046258..7094207hg19UCSC Ensembl
Innerchr16:6986259..7034208hg18UCSC Ensembl
Innerchr16:6986259..7034208hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3847950
hg1947950
hg1847950
hg1747950
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457381
Supporting Variants
Samples1780862176_A
Known GenesRBFOX1
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)nssv534579
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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