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dbVar

Database of genomic structural variation

nsv984436

Organism: Homo sapiens

Study:nstd89 (de Boer et al. 2014)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)
Variant is Defined by:KJ027511

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:Novel LINE1-mediated retroinsertion of a transcript from the TMF1 gene on chr 3 into intron 1 of the CYBB gene on chr X in a patient affected with X-linked chronic granulomatous disease. Insertion results in the inclusion of an extra 117-bp exon, containing a premature stop codon, in the CYBB transcript.
Publication(s):de Boer et al. 2014

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 431 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):37,781,029-37,781,029

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv984436	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	37,781,029	37,781,029
nsv984436	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	37,640,282	37,640,282

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Zygosity
nssv3217055	mobile element insertion	1	Sequencing	Sequence alignment	Chronic granulomatous disease, X-linked	Pathogenic	Submitter	Heterozygous

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv3217055	Remapped	Perfect	NC_000023.11:g.377 81029_37781030ins5 839	GRCh38.p12	First Pass	NC_000023.11	ChrX	37,781,029	37,781,029
nssv3217055	Submitted genomic		NC_000023.10:g.376 40282_37640283ins5 839	GRCh37 (hg19)		NC_000023.10	ChrX	37,640,282	37,640,282

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age
nssv3217055	1	GRCh37: NC_000023.10:g.37640282_37640283ins5839	mobile element insertion	Chronic granulomatous disease, X-linked	Pathogenic	Submitter	Male	22 years

No genotype data were submitted for this variant

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