A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056929



Internal ID18799460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54835663hg38UCSC Ensembl
Innerchr19:55297871..55347118hg19UCSC Ensembl
Innerchr19:59989683..60038930hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3849245
hg1949248
hg1849248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3673n100
Supporting Variantsnssv3570230, nssv3726605, nssv3570225, nssv3570224, nssv3570234, nssv3570231, nssv3726606, nssv3570229, nssv3726604, nssv3570240, nssv3570233, nssv3570238, nssv3570228, nssv3570227, nssv3570232, nssv3570226, nssv3570236, nssv3570235, nssv3570239, nssv3570237
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)nsv1056929
Frequency
Sample Size29084
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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