A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539997



Internal ID15503816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:101855205..101898871hg38UCSC Ensembl
Innerchr6:102303080..102346746hg19UCSC Ensembl
Innerchr6:102409773..102453439hg18UCSC Ensembl
Innerchr6:102409773..102453439hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3843667
hg1943667
hg1843667
hg1743667
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463994
Supporting Variants
Samples1780862432_A
Known GenesGRIK2
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)nssv539997
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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