A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059036



Internal ID19148255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42786621..43038667hg38UCSC Ensembl
Innerchr19:43290773..43542819hg19UCSC Ensembl
Innerchr19:47982613..48234659hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38252047
hg19252047
hg18252047
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3565n100
Supporting Variantsnssv3568985, nssv3568978, nssv3568989, nssv3568986, nssv3722899, nssv3568982, nssv3568976, nssv3568979, nssv3568995, nssv3568987, nssv3568993, nssv3722896, nssv3722897, nssv3568990, nssv3568988, nssv3722900, nssv3568981, nssv3568992, nssv3722902, nssv3722898, nssv3568994, nssv3568984, nssv3568991, nssv3568977, nssv3722901, nssv3568980, nssv3568983
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059036
Frequency
Sample Size11257
Observed Gain1
Observed Loss26
Observed Complex0
Frequencyn/a


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