A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057709



Internal ID18800240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54849083hg38UCSC Ensembl
Innerchr19:55297871..55360538hg19UCSC Ensembl
Innerchr19:59989683..60052350hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3862665
hg1962668
hg1862668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3676n100
Supporting Variantsnssv3570336, nssv3570338, nssv3570335, nssv3570337, nssv3570339, nssv3570341, nssv3570340
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)nsv1057709
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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