A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2414046



Internal ID17506587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:69702871..69706146hg38UCSC Ensembl
Innerchr6:70412763..70416038hg19UCSC Ensembl
Innerchr6:70469484..70472759hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383276
hg193276
hg183276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970139
Supporting Variants
SamplesHGDP01029
Known GenesLMBRD1
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)nssv2414046
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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