A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056706



Internal ID19145925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51208255..51235832hg38UCSC Ensembl
Innerchr18:48734625..48762202hg19UCSC Ensembl
Innerchr18:46988623..47016200hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3827578
hg1927578
hg1827578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565447, nssv3565448
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056706
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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