A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065142



Internal ID18807673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54849083hg38UCSC Ensembl
Innerchr19:55248107..55360538hg19UCSC Ensembl
Innerchr19:59939919..60052350hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38112443
hg19112432
hg18112432
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3672n100
Supporting Variantsnssv3574599, nssv3574598, nssv3574597
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065142
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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