A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051367



Internal ID18793898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21378649..21582301hg38UCSC Ensembl
Innerchr16:21389970..21593622hg19UCSC Ensembl
Innerchr16:21297471..21501123hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38203653
hg19203653
hg18203653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2801n100
Supporting Variantsnssv3548054, nssv3548055, nssv3719282
Samples
Known GenesLOC100190986, LOC100271836, NPIPB3, SLC7A5P2, SNX29P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051367
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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