A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057206



Internal ID18799737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:58546716..58586475hg38UCSC Ensembl
Innerchr19:59058083..59097842hg19UCSC Ensembl
Innerchr19:63749895..63789654hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3839760
hg1939760
hg1839760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570467, nssv3570468, nssv3570469
Samples
Known GenesCENPBD1P1, CHMP2A, LOC100131691, MIR6807, MZF1, TRIM28, UBE2M
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057206
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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