A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061438



Internal ID19150657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54739639..54815158hg38UCSC Ensembl
Innerchr19:55251085..55326613hg19UCSC Ensembl
Innerchr19:59942897..60018425hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875520
hg1975529
hg1875529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3669n100
Supporting Variantsnssv3574606, nssv3726586, nssv3574610, nssv3574607, nssv3574605, nssv3574608, nssv3574604, nssv3574609
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061438
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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