A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578202



Internal ID16018925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1049519..1051215hg38UCSC Ensembl
Innerchr19:1049518..1051214hg19UCSC Ensembl
Innerchr19:1000518..1002214hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6181n54
Supporting Variantsnssv891427, nssv891426
Samples
Known GenesABCA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578202
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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