A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578478



Internal ID16365887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6958123..7000390hg38UCSC Ensembl
Innerchr19:6958134..7000401hg19UCSC Ensembl
Innerchr19:6909134..6951401hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3842268
hg1942268
hg1842268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6238n54
Supporting Variantsnssv893203, nssv893204, nssv893207, nssv1150032, nssv893202, nssv893206, nssv893205, nssv1150033
SamplesHGDP01078, HGDP01147
Known GenesEMR4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578478
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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