A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461211



Internal ID15521276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7528724..7547135hg38UCSC Ensembl
Innerchr4:7530451..7548862hg19UCSC Ensembl
Innerchr4:7581351..7599762hg18UCSC Ensembl
Innerchr4:7648522..7666933hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3818412
hg1918412
hg1818412
hg1718412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642n27
Supporting Variantsnssv537629
SamplesHGDP00857
Known GenesSORCS2
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)nsv461211
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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