A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044212



Internal ID19133431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12627638..12643124hg38UCSC Ensembl
Innerchr16:12721495..12736981hg19UCSC Ensembl
Innerchr16:12628996..12644482hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3815487
hg1915487
hg1815487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2735n100
Supporting Variantsnssv3557218, nssv3718883, nssv3557219
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044212
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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