A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2072926



Internal ID17421925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7451184..7454586hg38UCSC Ensembl
Innerchr17:7354503..7357905hg19UCSC Ensembl
Innerchr17:7295227..7298629hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383403
hg193403
hg183403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv978356
Supporting Variants
SamplesHGDP00542
Known GenesCHRNB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2072926
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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