A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059048



Internal ID18801579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54852441hg38UCSC Ensembl
Innerchr19:55297871..55363896hg19UCSC Ensembl
Innerchr19:59989683..60055708hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3866023
hg1966026
hg1866026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3675n100
Supporting Variantsnssv3570344, nssv3570343
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059048
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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