A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067347



Internal ID18809878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54867988hg38UCSC Ensembl
Innerchr19:55297871..55379443hg19UCSC Ensembl
Innerchr19:59989683..60071255hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3881570
hg1981573
hg1881573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3676n100
Supporting Variantsnssv3570370, nssv3570371
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)nsv1067347
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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