A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464081



Internal ID15524146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151002528..151015304hg38UCSC Ensembl
Innerchr6:151323664..151336440hg19UCSC Ensembl
Innerchr6:151365357..151378133hg18UCSC Ensembl
Innerchr6:151415778..151428554hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3812777
hg1912777
hg1812777
hg1712777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540069
SamplesHGDP01380
Known GenesMTHFD1L
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)nsv464081
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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