A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075737



Internal ID18970407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23168206..23169207hg38UCSC Ensembl
chr1:23494699..23495700hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769433
SamplesKWP1
Known GenesLUZP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075737
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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