A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465672



Internal ID15179051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174164113..174500767hg38UCSC Ensembl
Innerchr1:174133251..174469905hg19UCSC Ensembl
Innerchr1:172399874..172736528hg18UCSC Ensembl
Innerchr1:170864908..171201562hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38336655
hg19336655
hg18336655
hg17336655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541429
SamplesHGDP01035
Known GenesGPR52, RABGAP1L
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)nsv465672
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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