A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1840184



Internal ID17745134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:37601553..37603627hg38UCSC Ensembl
Innerchr10:37890481..37892555hg19UCSC Ensembl
Innerchr10:37930487..37932561hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg382075
hg192075
hg182075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947850
Supporting Variants
SamplesHGDP00521
Known GenesMTRNR2L7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1840184
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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