A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041145



Internal ID19130364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21401070..21582301hg38UCSC Ensembl
Innerchr16:21412391..21593622hg19UCSC Ensembl
Innerchr16:21319892..21501123hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38181232
hg19181232
hg18181232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2801n100
Supporting Variantsnssv3719283, nssv3548057, nssv3548060, nssv3548058, nssv3548059
Samples
Known GenesLOC100190986, LOC100271836, NPIPB3, SLC7A5P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041145
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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