A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578230



Internal ID16018953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1137305..1138268hg38UCSC Ensembl
Innerchr19:1137304..1138267hg19UCSC Ensembl
Innerchr19:1088304..1089267hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38964
hg19964
hg18964
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6189n54
Supporting Variantsnssv891667, nssv891666, nssv891676, nssv891671, nssv891673, nssv891677, nssv891665, nssv891663, nssv891670, nssv891672, nssv891675, nssv891664, nssv891674, nssv891668, nssv891669
Samples
Known GenesSBNO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578230
Frequency
Sample Size17421
Observed Gain12
Observed Loss3
Observed Complex0
Frequencyn/a


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