A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060090



Internal ID18802621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54854163hg38UCSC Ensembl
Innerchr19:55248107..55365618hg19UCSC Ensembl
Innerchr19:59939919..60057430hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38117523
hg19117512
hg18117512
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3672n100
Supporting Variantsnssv3574600, nssv3574601
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, 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)nsv1060090
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer