A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072217



Internal ID18974478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44498019..44498620hg38UCSC Ensembl
chr22:44893899..44894500hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772029
SamplesKWP1
Known GenesLDOC1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072217
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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