A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055184



Internal ID19144403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54756764..54837236hg38UCSC Ensembl
Innerchr19:55268216..55348691hg19UCSC Ensembl
Innerchr19:59960028..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3880473
hg1980476
hg1880476
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3671n100
Supporting Variantsnssv3574638, nssv3574648, nssv3574662, nssv3574645, nssv3574654, nssv3574656, nssv3574637, nssv3574640, nssv3574649, nssv3726601, nssv3726599, nssv3574653, nssv3574639, nssv3574647, nssv3574659, nssv3574657, nssv3726600, nssv3574644, nssv3574665, nssv3574661, nssv3574658, nssv3574664, nssv3574651, nssv3574655, nssv3574650, nssv3726598, nssv3574663, nssv3574646, nssv3574642, nssv3574660, nssv3574652, nssv3574641, nssv3574643
Samples
Known GenesKIR2DL1, 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)nsv1055184
Frequency
Sample Size11257
Observed Gain6
Observed Loss27
Observed Complex0
Frequencyn/a


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