A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517170



Internal ID15097777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89171845..89215450hg38UCSC Ensembl
Innerchr10:90931602..90975207hg19UCSC Ensembl
Innerchr10:90921582..90965187hg18UCSC Ensembl
Innerchr10:90921582..90965187hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3843606
hg1943606
hg1843606
hg1743606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690546, nssv674924, nssv660882, nssv692398, nssv666963, nssv661974, nssv702059, nssv660821, nssv692274, nssv677841, nssv668262, nssv652502, nssv684853, nssv659795, nssv653917, nssv675363, nssv680735, nssv656996, nssv657884, nssv690697, nssv655166, nssv674947, nssv654687, nssv685752, nssv675923, nssv683480, nssv668343, nssv667490, nssv693846, nssv679820, nssv681592, nssv657831, nssv661099, nssv655274, nssv676141, nssv652521
Samples
Known GenesCH25H, LIPA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517170
Frequency
Sample Size2026
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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