A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000228



Internal ID16946494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4530706..4553205hg38UCSC Ensembl
Outerchr17:4434001..4456500hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3822500
hg1922500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952109
Supporting Variants
SamplesBILGI_BIOE
Known GenesMYBBP1A, SPNS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000228
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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