A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060966



Internal ID18803497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54788617..54849083hg38UCSC Ensembl
Innerchr19:55300069..55360538hg19UCSC Ensembl
Innerchr19:59991881..60052350hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3860467
hg1960470
hg1860470
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3675n100
Supporting Variantsnssv3570399, nssv3570400, nssv3570401, nssv3726638, nssv3570398
Samples
Known GenesKIR2DL4, 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)nsv1060966
Frequency
Sample Size29084
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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