A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465628



Internal ID15525693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171412607..171440376hg38UCSC Ensembl
Innerchr1:171381746..171409515hg19UCSC Ensembl
Innerchr1:169648370..169676139hg18UCSC Ensembl
Innerchr1:168113404..168141173hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3827770
hg1927770
hg1827770
hg1727770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541402
SamplesHGDP00984
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)nsv465628
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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