A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039730



Internal ID18782261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4902193..4970782hg38UCSC Ensembl
Innerchr16:4952194..5020783hg19UCSC Ensembl
Innerchr16:4892195..4960784hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3868590
hg1968590
hg1868590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556974
Samples
Known GenesPPL, SEC14L5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039730
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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