A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516369



Internal ID15096976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151807701..151847848hg38UCSC Ensembl
Innerchr1:151780177..151820324hg19UCSC Ensembl
Innerchr1:150046801..150086948hg18UCSC Ensembl
Innerchr1:148593250..148633397hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3840148
hg1940148
hg1840148
hg1740148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667816, nssv694803, nssv672480
Samples
Known GenesC2CD4D, LOC100132111, RORC, THEM5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516369
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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