A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2429075



Internal ID17493191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160493093..160497203hg38UCSC Ensembl
Innerchr6:160914125..160918235hg19UCSC Ensembl
Innerchr6:160834115..160838225hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg384111
hg194111
hg184111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv969463
Supporting Variants
SamplesHGDP00998
Known GenesLPAL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2429075
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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