A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2414444



Internal ID17770248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73055127..73059838hg38UCSC Ensembl
Innerchr6:73764850..73769561hg19UCSC Ensembl
Innerchr6:73821571..73826282hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384712
hg194712
hg184712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970142
Supporting Variants
SamplesHGDP00542
Known GenesKCNQ5
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)nssv2414444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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