A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578193



Internal ID16018916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1049468..1049936hg38UCSC Ensembl
Innerchr19:1049467..1049935hg19UCSC Ensembl
Innerchr19:1000467..1000935hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38469
hg19469
hg18469
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6180n54
Supporting Variantsnssv891298, nssv891291, nssv891295, nssv891293, nssv891289, nssv891294, nssv891296, nssv891299, nssv891297, nssv891292, nssv891290
Samples
Known GenesABCA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578193
Frequency
Sample Size17421
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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