A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000666



Internal ID18743197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89918542..89977659hg38UCSC Ensembl
Innerchr1:90384101..90443218hg19UCSC Ensembl
Innerchr1:90156689..90215806hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3859118
hg1959118
hg1859118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3699600
Samples
Known GenesLRRC8D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000666
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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