A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055171



Internal ID19144390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736428..54815158hg38UCSC Ensembl
Innerchr19:55247895..55326613hg19UCSC Ensembl
Innerchr19:59939707..60018425hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3878731
hg1978719
hg1878719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3669n100
Supporting Variantsnssv3726572, nssv3726571, nssv3574558, nssv3574559
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL3, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055171
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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