A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056007



Internal ID18798538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32132011..32319601hg38UCSC Ensembl
Innerchr18:29711974..29899564hg19UCSC Ensembl
Innerchr18:27965972..28153562hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38187591
hg19187591
hg18187591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564170
Samples
Known GenesGAREM, MEP1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056007
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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