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dbVar

Database of genomic structural variation

nsv3170324

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:102,332

Description:BCL11A
Publication(s):Balci et al. 2015, Basak et al. 2015, Dias et al. 2016, Riggs et al. 2011

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: 398 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):60,451,167-60,553,498

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3170324	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	60,451,167	60,553,498
nsv3170324	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	60,678,302	60,780,633

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv14252575	copy number loss	Curated	Curated	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	Pathogenic	ClinGen Dosage Sensitivity Map	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14252575	Remapped	Perfect	NC_000002.12:g.(?_ 60451167)_(6055349 8_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	60,451,167	60,553,498
nssv14252575	Submitted genomic		NC_000002.11:g.(?_ 60678302)_(6078063 3_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	60,678,302	60,780,633

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv14252575	GRCh37: NC_000002.11:g.(?_60678302)_(60780633_?)del	copy number loss	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	Pathogenic	ClinGen Dosage Sensitivity Map	1

No genotype data were submitted for this variant

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