A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070849



Internal ID18979345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78509000..78509234hg38UCSC Ensembl
chr17:76505082..76505316hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763664
SamplesKWP1
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070849
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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