A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000256



Internal ID16946522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17700587..17819486hg38UCSC Ensembl
Outerchr17:17603901..17722800hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38118900
hg19118900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953838
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR33B, MIR6777, RAI1, SMCR5, SREBF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000256
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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