A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065221



Internal ID18807752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46772775..46831220hg38UCSC Ensembl
Innerchr19:47276032..47334477hg19UCSC Ensembl
Innerchr19:51967872..52026317hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3858446
hg1958446
hg1858446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573805
Samples
Known GenesSLC1A5, SNAR-E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065221
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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