A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044056



Internal ID18786587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22430641..22692541hg38UCSC Ensembl
Innerchr16:22441962..22703862hg19UCSC Ensembl
Innerchr16:22349463..22611363hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38261901
hg19261901
hg18261901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2813n100
Supporting Variantsnssv3548173
Samples
Known GenesLOC100190986, LOC653786, NPIPB5, RRN3P3, SMG1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044056
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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