A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520398



Internal ID15101005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154095720..154169432hg38UCSC Ensembl
Innerchr1:154068196..154141908hg19UCSC Ensembl
Innerchr1:152334820..152408532hg18UCSC Ensembl
Innerchr1:150881269..150954981hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3873713
hg1973713
hg1873713
hg1773713
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676401, nssv706092, nssv663691
Samples
Known GenesNUP210L, TPM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520398
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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