A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461553



Internal ID15521618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70107810..70159831hg38UCSC Ensembl
Innerchr4:70973527..71025548hg19UCSC Ensembl
Innerchr4:71008116..71060137hg18UCSC Ensembl
Innerchr4:71154287..71206308hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3852022
hg1952022
hg1852022
hg1752022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537932
SamplesHGDP00934
Known GenesC4orf40, CSN1S2BP
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)nsv461553
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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