A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068971



Internal ID19319668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234397053..234398054hg38UCSC Ensembl
chr1:234532799..234533800hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769210
SamplesKWP1
Known GenesTARBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068971
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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