A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv877303



Internal ID15824573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:1700238..3043518hg38UCSC Ensembl
Innerchr18:1700239..3043516hg19UCSC Ensembl
Innerchr18:1690239..3033516hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381343281
hg191343278
hg181343278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576251
Supporting Variants
Samples
Known GenesCBX3P2, EMILIN2, LOC727896, LPIN2, METTL4, NDC80, SMCHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv877303
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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