A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516302



Internal ID8410577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32855000..32914507hg38UCSC Ensembl
Innerchr1:33320601..33380108hg19UCSC Ensembl
Innerchr1:33093188..33152695hg18UCSC Ensembl
Innerchr1:32989694..33049201hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3859508
hg1959508
hg1859508
hg1759508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670847, nssv661821, nssv668150, nssv668935, nssv667416, nssv699367, nssv672465, nssv687923, nssv696432
Samples
Known GenesFNDC5, HPCA, S100PBP, TMEM54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516302
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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