A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771080



Internal ID18958758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45307533..45449134hg38UCSC Ensembl
chr17:43384899..43526500hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38141602
hg19141602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070831
Supporting Variants
SamplesKWP1
Known GenesARHGAP27, MAP3K14, PLEKHM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771080
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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