A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516053



Internal ID15096660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27329738..27373410hg38UCSC Ensembl
Innerchr16:27341059..27384731hg19UCSC Ensembl
Innerchr16:27248560..27292232hg18UCSC Ensembl
Innerchr16:27248560..27292232hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3843673
hg1943673
hg1843673
hg1743673
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657660, nssv655179, nssv683708, nssv685438, nssv688331, nssv670202, nssv683643, nssv685116, nssv676850, nssv665924, nssv663817, nssv661272, nssv660649, nssv656053, nssv665894, nssv670713, nssv670645, nssv658712, nssv683337, nssv690816, nssv661779, nssv673748, nssv703842, nssv680201, nssv678966, nssv672657, nssv692670, nssv689335, nssv678985, nssv690601, nssv666251, nssv705647
Samples
Known GenesIL4R
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516053
Frequency
Sample Size2026
Observed Gain1
Observed Loss31
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer