A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2408377



Internal ID17881297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44248884..44253443hg38UCSC Ensembl
Innerchr6:44216621..44221180hg19UCSC Ensembl
Innerchr6:44324599..44329158hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384560
hg194560
hg184560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969396
Supporting Variants
SamplesHGDP01307
Known GenesHSP90AB1
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)nssv2408377
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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