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dbVar

Database of genomic structural variation

nsv4768387

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,533,381

Description:NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1 AND Complex neurodevelopmental disorder

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: 4050 SVs from 96 studies. See in: genome view

Remapped(Score: Good):37,368,802-38,902,182

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4768387	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	37,368,802	38,902,182
nsv4768387	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	38,741,104	40,274,106
nsv4768387	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000021.7	Chr21	37,662,974	39,195,976

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16296971	copy number loss	Multiple	Multiple	Complex neurodevelopmental disorder; complex neurodevelopmental disorder	Pathogenic	ClinVar	RCV001264790.1, VCV000984686.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16296971	Remapped	Good	NC_000021.9:g.(?_3 7368802)_(38902182 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	37,368,802	38,902,182
nssv16296971	Remapped	Perfect	NC_000021.8:g.(?_3 8741104)_(40274106 _?)del	GRCh37.p13	First Pass	NC_000021.8	Chr21	38,741,104	40,274,106
nssv16296971	Submitted genomic		NC_000021.7:g.(?_3 7662974)_(39195976 _?)del	NCBI36 (hg18)		NC_000021.7	Chr21	37,662,974	39,195,976

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	Copy number
nssv16296971	NCBI36: NC_000021.7:g.(?_37662974)_(39195976_?)del	copy number loss	inherited	Complex neurodevelopmental disorder; complex neurodevelopmental disorder	Pathogenic	ClinVar	RCV001264790.1, VCV000984686.1	1

No genotype data were submitted for this variant

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