A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519553



Internal ID15446846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37723169..37726865hg38UCSC Ensembl
Innerchr1:38188841..38192537hg19UCSC Ensembl
Innerchr1:37961428..37965124hg18UCSC Ensembl
Innerchr1:37857934..37861630hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383697
hg193697
hg183697
hg173697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656833, nssv678161, nssv694242, nssv676228, nssv658587
Samples
Known GenesEPHA10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519553
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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