A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2422710



Internal ID17809669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:126642848..126646093hg38UCSC Ensembl
Innerchr6:126963994..126967239hg19UCSC Ensembl
Innerchr6:127005687..127008932hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg383246
hg193246
hg183246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970163
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2422710
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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