A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461185



Internal ID15521250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6041005..6063703hg38UCSC Ensembl
Innerchr4:6042732..6065430hg19UCSC Ensembl
Innerchr4:6093633..6116331hg18UCSC Ensembl
Innerchr4:6160804..6183502hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3822699
hg1922699
hg1822699
hg1722699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537612
SamplesHGDP00515
Known GenesJAKMIP1
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)nsv461185
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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