A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517483



Internal ID15444776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169607330..169612020hg38UCSC Ensembl
Innerchr1:169576568..169581258hg19UCSC Ensembl
Innerchr1:167843192..167847882hg18UCSC Ensembl
Innerchr1:166308226..166312916hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384691
hg194691
hg184691
hg174691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652156, nssv659831, nssv693364, nssv682474, nssv687920, nssv664245
Samples
Known GenesSELP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517483
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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