A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064551



Internal ID19153770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42786621..43106905hg38UCSC Ensembl
Innerchr19:43290773..43611057hg19UCSC Ensembl
Innerchr19:47982613..48302897hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38320285
hg19320285
hg18320285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3556n100
Supporting Variantsnssv3722905
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, 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)nsv1064551
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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