A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523174



Internal ID15450467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167790928..167795688hg38UCSC Ensembl
Innerchr1:167760165..167764925hg19UCSC Ensembl
Innerchr1:166026789..166031549hg18UCSC Ensembl
Innerchr1:164491823..164496583hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384761
hg194761
hg184761
hg174761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698886
Samples
Known GenesMPZL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523174
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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