A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3569547



Internal ID18867828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42795265..43109111hg38UCSC Ensembl
Innerchr19:43299417..43613263hg19UCSC Ensembl
Innerchr19:47991257..48305103hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38313847
hg19313847
hg18313847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063043
Supporting Variants
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)nssv3569547
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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