A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2430109



Internal ID17462110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160482499..160487694hg38UCSC Ensembl
Innerchr6:160903531..160908726hg19UCSC Ensembl
Innerchr6:160823521..160828716hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385196
hg195196
hg185196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970183
Supporting Variants
SamplesHGDP00778
Known GenesLPAL2
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)nssv2430109
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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