A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534708



Internal ID15156605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:77694338..77976550hg38UCSC Ensembl
Innerchr16:77728235..78010447hg19UCSC Ensembl
Innerchr16:76285736..76567948hg18UCSC Ensembl
Innerchr16:76285736..76567948hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38282213
hg19282213
hg18282213
hg17282213
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457543
Supporting Variants
Samples1780862176_A
Known GenesNUDT7, VAT1L
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)nssv534708
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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