A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584178



Internal ID16371587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202655549..202775990hg38UCSC Ensembl
Innerchr2:203520272..203640713hg19UCSC Ensembl
Innerchr2:203228517..203348958hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38120442
hg19120442
hg18120442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7253n54
Supporting Variantsnssv930372
Samples
Known GenesFAM117B, ICA1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584178
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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