A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465436



Internal ID15178815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6710680..7063882hg38UCSC Ensembl
Innerchr8:6568201..6921404hg19UCSC Ensembl
Innerchr8:6555609..6908814hg18UCSC Ensembl
Innerchr8:6555609..6908814hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38353203
hg19353204
hg18353206
hg17353206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541233
SamplesNINDS_20
Known GenesAGPAT5, DEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2, LOC100652791, MIR4659A, MIR4659B, XKR5
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)nsv465436
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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