A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578643



Internal ID16366052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14086937..14090370hg38UCSC Ensembl
Innerchr19:14197749..14201182hg19UCSC Ensembl
Innerchr19:14058749..14062182hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383434
hg193434
hg183434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv894813
Samples
Known GenesSAMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578643
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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