A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075792



Internal ID19317523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149158783..149170988hg38UCSC Ensembl
chr1:144525999..144538200hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3812206
hg1912202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771345
SamplesKWP1
Known GenesLOC100288142
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075792
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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