A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070831



Internal ID18976270
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 StatusM
Merged Variants
Supporting Variantsnssv3771080
SamplesKWP1
Known GenesARHGAP27, MAP3K14, PLEKHM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070831
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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