A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070557



Internal ID18972622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122021793..122022794hg38UCSC Ensembl
chr12:122459699..122460700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763652
SamplesKWP1
Known GenesBCL7A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070557
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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