A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060742



Internal ID18803273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54788617..54837236hg38UCSC Ensembl
Innerchr19:55300069..55348691hg19UCSC Ensembl
Innerchr19:59991881..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3848620
hg1948623
hg1848623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3673n100
Supporting Variantsnssv3570390, nssv3570392, nssv3726637, nssv3570397, nssv3726636, nssv3726635, nssv3570386, nssv3570387, nssv3570389, nssv3570396, nssv3570394, nssv3570393, nssv3570391, nssv3570395, nssv3570388, nssv3570385
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)nsv1060742
Frequency
Sample Size29084
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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