A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463980



Internal ID15177359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:95388284..95588040hg38UCSC Ensembl
Innerchr6:95836160..96035916hg19UCSC Ensembl
Innerchr6:95942881..96142637hg18UCSC Ensembl
Innerchr6:95942881..96142637hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38199757
hg19199757
hg18199757
hg17199757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539990
SamplesNINDS_174
Known GenesMANEA, MANEA-AS1
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)nsv463980
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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