A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550706



Internal ID15991429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44864035hg38UCSC Ensembl
Innerchr10:45210690..45359483hg19UCSC Ensembl
Innerchr10:44530696..44679489hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38148794
hg19148794
hg18148794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1104n54
Supporting Variantsnssv1173564, nssv747336, nssv1173567, nssv1173562, nssv1173566, nssv747339, nssv1173565, nssv747340, nssv1173560, nssv747338, nssv747337, nssv1173563, nssv1173561
Samples1780854573_A, HGDP00520, 1780854535_A, 1780862392_A, HGDP01253, HGDP01368, NINDS_40, 1780862379_A
Known GenesTMEM72-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550706
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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