A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2076648



Internal ID17750388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10527782..10530541hg38UCSC Ensembl
Innerchr17:10431099..10433858hg19UCSC Ensembl
Innerchr17:10371824..10374583hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382760
hg192760
hg182760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960409
Supporting Variants
SamplesHGDP00521
Known GenesMYH2
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)nssv2076648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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