A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2424550



Internal ID17459699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136260313..136261054hg38UCSC Ensembl
Innerchr6:136581451..136582192hg19UCSC Ensembl
Innerchr6:136623144..136623885hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965770
Supporting Variants
SamplesHGDP00778
Known GenesBCLAF1
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)nssv2424550
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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