A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070407



Internal ID19321865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45450133..45488934hg38UCSC Ensembl
chr17:43527499..43566300hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3838802
hg1938802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764962
SamplesKWP1
Known GenesMIR4315-1, MIR4315-2, PLEKHM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070407
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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