A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578301



Internal ID16365710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1566455..1567450hg38UCSC Ensembl
Innerchr19:1566454..1567449hg19UCSC Ensembl
Innerchr19:1517454..1518449hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38996
hg19996
hg18996
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6202n54
Supporting Variantsnssv891816, nssv891819, nssv891818, nssv891813, nssv891815, nssv891817, nssv891812, nssv891820, nssv891821, nssv891814
Samples
Known GenesMEX3D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578301
Frequency
Sample Size17421
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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