A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068308



Internal ID18975659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46865462..47075063hg38UCSC Ensembl
chr10:48664299..48873900hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38209602
hg19209602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766952
SamplesKWP1
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068308
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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