A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521887



Internal ID15102494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154264094..154711630hg38UCSC Ensembl
Innerchr1:154236570..154684106hg19UCSC Ensembl
Innerchr1:152503194..152950730hg18UCSC Ensembl
Innerchr1:151049643..151497179hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38447537
hg19447537
hg18447537
hg17447537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694658
Samples
Known GenesADAR, AQP10, ATP8B2, CHRNB2, HAX1, IL6R, KCNN3, SHE, TDRD10, UBAP2L, UBE2Q1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521887
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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