A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517210



Internal ID15097817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167269581..167365010hg38UCSC Ensembl
Innerchr6:167683069..167778498hg19UCSC Ensembl
Innerchr6:167603059..167698488hg18UCSC Ensembl
Innerchr6:167653480..167748909hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3895430
hg1995430
hg1895430
hg1795430
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696677, nssv663110, nssv660848, nssv692177, nssv701744, nssv669483, nssv700672, nssv678827, nssv701465, nssv665181, nssv678542, nssv695167, nssv681537, nssv654018, nssv672193, nssv686074, nssv655047
Samples
Known GenesTTLL2, UNC93A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517210
Frequency
Sample Size2026
Observed Gain1
Observed Loss16
Observed Complex0
Frequencyn/a


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