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dbVar

Database of genomic structural variation

nsv6315562

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,198,435

Description:GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) AND Chromosome 22q11.2 microduplication syndrome

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: 14383 SVs from 139 studies. See in: genome view

Remapped(Score: Good):21,444,617-24,643,051

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315562	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	21,444,617	24,643,051
nsv6315562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	21,798,906	25,039,018

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976882	copy number gain	Multiple	Multiple	22q11.2 duplication syndrome; CHROMOSOME 22q11.2 DUPLICATION SYNDROME; Chromosome 22q11.2 microduplication syndrome	Pathogenic	ClinVar	RCV002280733.1, VCV001703645.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976882	Remapped	Good	NC_000022.11:g.(?_ 21444617)_(2464305 1_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	21,444,617	24,643,051
nssv17976882	Submitted genomic		NC_000022.10:g.(?_ 21798906)_(2503901 8_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	21,798,906	25,039,018

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976882	GRCh37: NC_000022.10:g.(?_21798906)_(25039018_?)dup	copy number gain	unknown	22q11.2 duplication syndrome; CHROMOSOME 22q11.2 DUPLICATION SYNDROME; Chromosome 22q11.2 microduplication syndrome	Pathogenic	ClinVar	RCV002280733.1, VCV001703645.1

No genotype data were submitted for this variant

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