A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579687



Internal ID16367096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42817913..43089269hg38UCSC Ensembl
Innerchr19:43322065..43593421hg19UCSC Ensembl
Innerchr19:48013905..48285261hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38271357
hg19271357
hg18271357
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149894, nssv1149893
SamplesNINDS_247, NINDS_84
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579687
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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