A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466004



Internal ID15179383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143581491..143640022hg38UCSC Ensembl
Innerchr8:144663661..144722192hg19UCSC Ensembl
Innerchr8:144734804..144793335hg18UCSC Ensembl
Innerchr8:144734804..144793335hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858532
hg1958532
hg1858532
hg1758532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541658
SamplesNINDS_50
Known GenesEEF1D, PYCRL, TIGD5, TSTA3, ZNF623
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)nsv466004
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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