A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461095



Internal ID15521160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38669208..38706616hg38UCSC Ensembl
Innerchr1:39134880..39172288hg19UCSC Ensembl
Innerchr1:38907467..38944875hg18UCSC Ensembl
Innerchr1:38803973..38841381hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3837409
hg1937409
hg1837409
hg1737409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537543
SamplesHGDP00157
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)nsv461095
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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