A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072724



Internal ID18970746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18225585..18225886hg38UCSC Ensembl
chr17:18128899..18129200hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762412
SamplesKWP1
Known GenesLLGL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072724
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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