A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998755



Internal ID16945021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45842635..45848734hg38UCSC Ensembl
Outerchr17:43920001..43926100hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953909
Supporting Variants
SamplesBILGI_BIOE
Known GenesMAPT-AS1, SPPL2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998755
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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