A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057568



Internal ID18800099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54739639..54867232hg38UCSC Ensembl
Innerchr19:55251085..55378687hg19UCSC Ensembl
Innerchr19:59942897..60070499hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38127594
hg19127603
hg18127603
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3672n100
Supporting Variantsnssv3726595, nssv3726594
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, 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)nsv1057568
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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