A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062670



Internal ID18805201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32710922..32726118hg38UCSC Ensembl
Innerchr18:30290885..30306081hg19UCSC Ensembl
Innerchr18:28544883..28560079hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3815197
hg1915197
hg1815197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3332n100
Supporting Variantsnssv3564182, nssv3564187, nssv3564185, nssv3564184, nssv3564189, nssv3564188, nssv3564186, nssv3564190, nssv3564183, nssv3725313
Samples
Known GenesKLHL14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062670
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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