A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461306



Internal ID15521371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40918166hg38UCSC Ensembl
Innerchr1:41347228..41383838hg19UCSC Ensembl
Innerchr1:41119815..41156425hg18UCSC Ensembl
Innerchr1:41016321..41052931hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3836611
hg1936611
hg1836611
hg1736611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n27
Supporting Variantsnssv537714
Samples1780862551_A
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)nsv461306
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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