A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062897



Internal ID19152116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42816973..43236801hg38UCSC Ensembl
Innerchr19:43321125..43740953hg19UCSC Ensembl
Innerchr19:48012965..48432793hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38419829
hg19419829
hg18419829
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3572n100
Supporting Variantsnssv3569710, nssv3569718, nssv3723019, nssv3569729, nssv3723018, nssv3569716, nssv3569737, nssv3723010, nssv3569709, nssv3569700, nssv3722998, nssv3569707, nssv3569724, nssv3569733, nssv3569708, nssv3723001, nssv3723012, nssv3569723, nssv3569693, nssv3569711, nssv3569691, nssv3569689, nssv3723014, nssv3569728, nssv3569717, nssv3569694, nssv3569727, nssv3569714, nssv3569704, nssv3569699, nssv3723011, nssv3569726, nssv3723009, nssv3723013, nssv3723015, nssv3722999, nssv3569736, nssv3569703, nssv3569721, nssv3569735, nssv3569732, nssv3569722, nssv3569706, nssv3569695, nssv3569698, nssv3569688, nssv3723016, nssv3723020, nssv3569731, nssv3723002, nssv3723017, nssv3723006, nssv3723000, nssv3569702, nssv3723005, nssv3569692, nssv3569687, nssv3723003, nssv3569730, nssv3723007, nssv3569734, nssv3569712, nssv3569686, nssv3569720, nssv3569697, nssv3569725, nssv3723004, nssv3569715, nssv3569705, nssv3723008, nssv3569719, nssv3569701, nssv3569713, nssv3569696, nssv3569690, nssv3723021
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, 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)nsv1062897
Frequency
Sample Size11257
Observed Gain12
Observed Loss64
Observed Complex0
Frequencyn/a


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