A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000253



Internal ID16946519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16424587..16438386hg38UCSC Ensembl
Outerchr17:16327901..16341700hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3813800
hg1913800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953835
Supporting Variants
SamplesBILGI_BIOE
Known GenesTRPV2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000253
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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