A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978467



Internal ID18613672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80616186..80617719hg38UCSC Ensembl
Innerchr17:78589986..78591519hg19UCSC Ensembl
Innerchr17:76204581..76206114hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381534
hg191534
hg181534
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2656238, nssv2113021, nssv2113017, nssv2656231, nssv2113022, nssv2113019, nssv2656235, nssv2113016, nssv2656233, nssv2656234, nssv2656230, nssv2113018, nssv2113020, nssv2113015, nssv2656229, nssv2656232, nssv2656237, nssv2113014, nssv2656236, nssv2113013
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPTOR
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978467
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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