A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057316



Internal ID18799847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55906849..56338089hg38UCSC Ensembl
Innerchr19:56418215..56849458hg19UCSC Ensembl
Innerchr19:61110027..61541270hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38431241
hg19431244
hg18431244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3681n100
Supporting Variantsnssv3570443
Samples
Known GenesGALP, NLRP13, NLRP5, NLRP8, ZNF444, ZNF787, ZSCAN5A, ZSCAN5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057316
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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