A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2077647



Internal ID17538916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10642410..10644582hg38UCSC Ensembl
Innerchr17:10545727..10547899hg19UCSC Ensembl
Innerchr17:10486452..10488624hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382173
hg192173
hg182173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960412
Supporting Variants
SamplesHGDP01307
Known GenesMYH3
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)nssv2077647
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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