A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118097



Internal ID18923584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6392940..6394040hg38UCSC Ensembl
Outerchr1:6453000..6454100hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980316
SamplesKWS1
Known GenesACOT7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118097
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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