A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466428



Internal ID15526493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188791497..188901352hg38UCSC Ensembl
Innerchr1:188760628..188870483hg19UCSC Ensembl
Innerchr1:187027251..187137106hg18UCSC Ensembl
Innerchr1:185492285..185602140hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38109856
hg19109856
hg18109856
hg17109856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n27
Supporting Variantsnssv541975
SamplesHGDP00092
Known Genes
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)nsv466428
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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