A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457624



Internal ID15171003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89738447..89915950hg38UCSC Ensembl
Innerchr16:89804855..89982358hg19UCSC Ensembl
Innerchr16:88332356..88509859hg18UCSC Ensembl
Innerchr16:88332356..88509859hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38177504
hg19177504
hg18177504
hg17177504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534770
SamplesNINDS_233
Known GenesFANCA, SPIRE2, TCF25, ZNF276
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)nsv457624
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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