A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064175



Internal ID18806706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6740268..7384530hg38UCSC Ensembl
Innerchr18:6740267..7384528hg19UCSC Ensembl
Innerchr18:6730267..7374528hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38644263
hg19644262
hg18644262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564087
Samples
Known GenesARHGAP28, LAMA1, LINC00668, LRRC30
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064175
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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