A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055552



Internal ID18798083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54788617..54867232hg38UCSC Ensembl
Innerchr19:55300069..55378687hg19UCSC Ensembl
Innerchr19:59991881..60070499hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3878616
hg1978619
hg1878619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3676n100
Supporting Variantsnssv3570406, nssv3726641, nssv3726639, nssv3570404, nssv3570405, nssv3726640
Samples
Known GenesKIR2DL4, 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)nsv1055552
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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