A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517161



Internal ID15097768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44920808hg38UCSC Ensembl
Innerchr10:45210690..45416256hg19UCSC Ensembl
Innerchr10:44530696..44736262hg18UCSC Ensembl
Innerchr10:44530696..44736262hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38205567
hg19205567
hg18205567
hg17205567
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691959, nssv684003, nssv683041, nssv662648, nssv653898, nssv688289, nssv680611, nssv683663, nssv663167, nssv665722, nssv660427, nssv691597, nssv677553, nssv693226, nssv667079, nssv655603
Samples
Known GenesTMEM72, TMEM72-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517161
Frequency
Sample Size2026
Observed Gain16
Observed Loss1
Observed Complex0
Frequencyn/a


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