A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055652



Internal ID18798183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58350291..58436713hg38UCSC Ensembl
Innerchr18:56017523..56103945hg19UCSC Ensembl
Innerchr18:54168503..54254925hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3886423
hg1986423
hg1886423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3364n100
Supporting Variantsnssv3565486
Samples
Known GenesNEDD4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055652
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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