A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578380



Internal ID16019103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2043272..2078489hg38UCSC Ensembl
Innerchr19:2043271..2078488hg19UCSC Ensembl
Innerchr19:1994271..2029488hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3835218
hg1935218
hg1835218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149826
Samples1780862229_A
Known GenesMKNK2, MOB3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578380
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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