A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2077774



Internal ID17866948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14176495..14179103hg38UCSC Ensembl
Innerchr17:14079812..14082420hg19UCSC Ensembl
Innerchr17:14020537..14023145hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382609
hg192609
hg182609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960413
Supporting Variants
SamplesHGDP01284
Known GenesCOX10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2077774
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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