A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058239



Internal ID18800770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54828266..54867054hg38UCSC Ensembl
Innerchr19:55339721..55378509hg19UCSC Ensembl
Innerchr19:60031533..60070321hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3838789
hg1938789
hg1838789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3678n100
Supporting Variantsnssv3570417, nssv3570418, nssv3570416
Samples
Known GenesKIR2DS4, KIR3DL1, KIR3DL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058239
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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