A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067148



Internal ID19156367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42758818..42858488hg38UCSC Ensembl
Innerchr19:43262970..43362640hg19UCSC Ensembl
Innerchr19:47954810..48054480hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3899671
hg1999671
hg1899671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3555n100
Supporting Variantsnssv3568834, nssv3568832, nssv3568846, nssv3568838, nssv3568830, nssv3568840, nssv3722869, nssv3722867, nssv3722866, nssv3568841, nssv3722870, nssv3568836, nssv3568843, nssv3568833, nssv3568839, nssv3568842, nssv3568848, nssv3568829, nssv3568831, nssv3568827, nssv3722868, nssv3568845, nssv3568847, nssv3722871, nssv3568835, nssv3568837, nssv3568828, nssv3568844
Samples
Known GenesLOC100289650, PSG10P, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067148
Frequency
Sample Size11257
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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