A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953830



Internal ID16956017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:11238884..11241583hg38UCSC Ensembl
Outerchr17:11142201..11144900hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000247
SamplesBILGI_BIOE
Known GenesSHISA6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953830
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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