A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694647



Internal ID15084613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3567790..5930980hg38UCSC Ensembl
Innerchr18:3567788..5930979hg19UCSC Ensembl
Innerchr18:3557788..5920979hg18UCSC Ensembl
Innerchr18:3557788..5920979hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382363191
hg192363192
hg182363192
hg172363192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521876
Supporting Variants
Samples
Known GenesC18orf42, DLGAP1, DLGAP1-AS1, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, EPB41L3, LINC00526, LINC00667, LOC645355, MIR3976, MIR6718, TMEM200C, ZBTB14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694647
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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