A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517107



Internal ID15097714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226187566..226320944hg38UCSC Ensembl
Innerchr1:226375267..226508645hg19UCSC Ensembl
Innerchr1:224441890..224575268hg18UCSC Ensembl
Innerchr1:222682002..222815380hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38133379
hg19133379
hg18133379
hg17133379
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670771, nssv689961, nssv676350, nssv653609, nssv665773, nssv661530, nssv668445, nssv700478, nssv705787, nssv670703, nssv692442, nssv656909, nssv655350, nssv660071, nssv674845, nssv669419, nssv679636
Samples
Known GenesLIN9, MIXL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517107
Frequency
Sample Size2026
Observed Gain14
Observed Loss3
Observed Complex0
Frequencyn/a


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