A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000254



Internal ID16946520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16491687..16492286hg38UCSC Ensembl
Outerchr17:16395001..16395600hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953836
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM211A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000254
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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