A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461073



Internal ID15174452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36459075..36495025hg38UCSC Ensembl
Innerchr1:36924676..36960626hg19UCSC Ensembl
Innerchr1:36697263..36733213hg18UCSC Ensembl
Innerchr1:36593769..36629719hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3835951
hg1935951
hg1835951
hg1735951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537522
Samples1780862529_A
Known GenesCSF3R, MRPS15
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)nsv461073
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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