A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465613



Internal ID15178992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22046701..22197835hg38UCSC Ensembl
Innerchr8:21904212..22055348hg19UCSC Ensembl
Innerchr8:21960158..22111293hg18UCSC Ensembl
Innerchr8:21960158..22111293hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38151135
hg19151137
hg18151136
hg17151136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541392
SamplesNINDS_51
Known GenesBMP1, DMTN, FAM160B2, FGF17, HR, LGI3, NUDT18, REEP4, SFTPC
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)nsv465613
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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