A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056177



Internal ID18798708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54073048..54112306hg38UCSC Ensembl
Innerchr19:54576302..54615687hg19UCSC Ensembl
Innerchr19:59268114..59307499hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3839259
hg1939386
hg1839386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573309, nssv3573310
Samples
Known GenesNDUFA3, OSCAR, TARM1, TFPT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056177
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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