A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2418302



Internal ID17776521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:96648381..96649146hg38UCSC Ensembl
Innerchr6:97096257..97097022hg19UCSC Ensembl
Innerchr6:97202978..97203743hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38766
hg19766
hg18766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970153
Supporting Variants
SamplesHGDP00542
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)nssv2418302
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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