A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767747



Internal ID18961501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31391481..31392082hg38UCSC Ensembl
chr17:29718499..29719100hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070823
Supporting Variants
SamplesKWP1
Known GenesRAB11FIP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767747
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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