A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057820



Internal ID18800351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56044576..56208893hg38UCSC Ensembl
Innerchr19:56555942..56720262hg19UCSC Ensembl
Innerchr19:61247754..61412074hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38164318
hg19164321
hg18164321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726645
Samples
Known GenesGALP, NLRP5, ZNF444, ZNF787, ZSCAN5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057820
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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