A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464076



Internal ID15177455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:149434559..149477699hg38UCSC Ensembl
Innerchr6:149755695..149798835hg19UCSC Ensembl
Innerchr6:149797388..149840528hg18UCSC Ensembl
Innerchr6:149797388..149840528hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3843141
hg1943141
hg1843141
hg1743141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540064
SamplesHGDP00907
Known GenesZC3H12D
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)nsv464076
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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