A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058687



Internal ID18801218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49097653..49147785hg38UCSC Ensembl
Innerchr19:49600910..49651042hg19UCSC Ensembl
Innerchr19:54292722..54342854hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3850133
hg1950133
hg1850133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3620n100
Supporting Variantsnssv3724908, nssv3574980, nssv3574978, nssv3574975, nssv3574981, nssv3574977, nssv3574976, nssv3724907, nssv3574979, nssv3574982
Samples
Known GenesC19orf73, LIN7B, PPFIA3, SNRNP70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058687
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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