A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576652



Internal ID16017375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36127201..36157117hg38UCSC Ensembl
Innerchr18:33707164..33737080hg19UCSC Ensembl
Innerchr18:31961162..31991078hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3829917
hg1929917
hg1829917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878962
Samples
Known GenesELP2, SLC39A6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576652
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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