A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464057



Internal ID15524122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124320615..124356077hg38UCSC Ensembl
Innerchr6:124641761..124677223hg19UCSC Ensembl
Innerchr6:124683460..124718922hg18UCSC Ensembl
Innerchr6:124683460..124718922hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3835463
hg1935463
hg1835463
hg1735463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540048
SamplesHGDP00066
Known GenesNKAIN2
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)nsv464057
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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