A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516682



Internal ID15097289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:34963570..34977717hg38UCSC Ensembl
Innerchr18:32543534..32557681hg19UCSC Ensembl
Innerchr18:30797532..30811679hg18UCSC Ensembl
Innerchr18:30797532..30811679hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3814148
hg1914148
hg1814148
hg1714148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679972, nssv670120
Samples
Known GenesMAPRE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516682
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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