A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463939



Internal ID15177318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:85495605..85570019hg38UCSC Ensembl
Innerchr6:86205323..86279737hg19UCSC Ensembl
Innerchr6:86262042..86336456hg18UCSC Ensembl
Innerchr6:86262042..86336456hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3874415
hg1974415
hg1874415
hg1774415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539954
SamplesHGDP00208
Known GenesNT5E, SNX14
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)nsv463939
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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