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dbVar

Database of genomic structural variation

nsv4675243

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:695,810

Description:GRCh37/hg19 14q32.2(chr14:100317190-101012999) AND Gabriele de Vries syndrome
Publication(s):Nabais Sá et al. 2019

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: 2175 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):99,850,853-100,546,662

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675243	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	99,850,853	100,546,662
nsv4675243	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	100,317,190	101,012,999

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16208783	copy number loss	Multiple	Multiple	GABRIELE-DE VRIES SYNDROME; GADEVS; Gabriele de Vries syndrome; Gabriele-de Vries Syndrome	Pathogenic	ClinVar	RCV001004104.2, VCV000813332.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208783	Remapped	Perfect	NC_000014.9:g.(?_9 9850853)_(10054666 2_?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	99,850,853	100,546,662
nssv16208783	Submitted genomic		NC_000014.8:g.(?_1 00317190)_(1010129 99_?)del	GRCh37 (hg19)		NC_000014.8	Chr14	100,317,190	101,012,999

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
nssv16208783	GRCh37: NC_000014.8:g.(?_100317190)_(101012999_?)del	copy number loss	de novo	GABRIELE-DE VRIES SYNDROME; GADEVS; Gabriele de Vries syndrome; Gabriele-de Vries Syndrome	Pathogenic	ClinVar	RCV001004104.2, VCV000813332.2

No genotype data were submitted for this variant

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