A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065075



Internal ID18807606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58026996..58058957hg38UCSC Ensembl
Innerchr18:55694228..55726189hg19UCSC Ensembl
Innerchr18:53845226..53877187hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3831962
hg1931962
hg1831962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3360n100
Supporting Variantsnssv3565465, nssv3565464, nssv3565463
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)nsv1065075
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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