A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465810



Internal ID15525875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130026863..130318766hg38UCSC Ensembl
Innerchr8:131039109..131331012hg19UCSC Ensembl
Innerchr8:131108291..131400194hg18UCSC Ensembl
Innerchr8:131108291..131400194hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38291904
hg19291904
hg18291904
hg17291904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541541
Samples1780862212_A
Known GenesASAP1, ASAP1-IT1, ASAP1-IT2
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)nsv465810
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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