A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516253



Internal ID15096860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14009457..14009527hg38UCSC Ensembl
Innerchr10:14051456..14051526hg19UCSC Ensembl
Innerchr10:14091462..14091532hg18UCSC Ensembl
Innerchr10:14091462..14091532hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
hg1771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667078, nssv686127, nssv689413, nssv676370, nssv674602, nssv689231
Samples
Known GenesFRMD4A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516253
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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