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dbVar

Database of genomic structural variation

nsv7098697

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:insertion
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:74

Description:
See descriptions for individual calls in download files
Publication(s):Amiel et al. 2003, Antic et al. 2006, Arai et al. 2007, Katz et al. 2000, Sivan et al. 2019, Trochet et al. 2005, Weese-Mayer et al. 2004, Weese-Mayer et al. 2010

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: 51 SVs from 16 studies. See in: genome view

Submitted genomic41,745,972-41,746,045

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Inner Stop
nsv7098697	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	41,745,972	41,746,045
nsv7098697	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	41,747,989	41,748,062

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786566	insertion	Multiple	Multiple	Central hypoventilation syndrome, congenital; Congenital Central Hypoventilation Syndrome; Congenital central hypoventilation; Haddad syndrome; Ondine syndrome	Pathogenic	ClinVar	RCV000006377.6, VCV000006008.5
nssv18786567	insertion	Multiple	Multiple	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS; Haddad syndrome; Haddad syndrome	Pathogenic	ClinVar	RCV000006378.6, VCV000006008.5
nssv18786568	insertion	Multiple	Multiple	Central hypoventilation syndrome, late-onset	Pathogenic	ClinVar	RCV000006379.6, VCV000006008.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Inner Stop
nssv18786566	Submitted genomic		NC_000004.12:g.417 45972_(41746045_?) ins?	GRCh38 (hg38)		NC_000004.12	Chr4	41,745,972	41,746,045
nssv18786567	Submitted genomic		NC_000004.12:g.417 45972_(41746045_?) ins?	GRCh38 (hg38)		NC_000004.12	Chr4	41,745,972	41,746,045
nssv18786568	Submitted genomic		NC_000004.12:g.417 45972_(41746045_?) ins?	GRCh38 (hg38)		NC_000004.12	Chr4	41,745,972	41,746,045
nssv18786566	Remapped	Perfect	NC_000004.11:g.417 47989_(41748062_?) ins?	GRCh37.p13	First Pass	NC_000004.11	Chr4	41,747,989	41,748,062
nssv18786567	Remapped	Perfect	NC_000004.11:g.417 47989_(41748062_?) ins?	GRCh37.p13	First Pass	NC_000004.11	Chr4	41,747,989	41,748,062
nssv18786568	Remapped	Perfect	NC_000004.11:g.417 47989_(41748062_?) ins?	GRCh37.p13	First Pass	NC_000004.11	Chr4	41,747,989	41,748,062

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
nssv18786566	GRCh38: NC_000004.12:g.41745972_(41746045_?)ins?	insertion	germline	Central hypoventilation syndrome, congenital; Congenital Central Hypoventilation Syndrome; Congenital central hypoventilation; Haddad syndrome; Ondine syndrome	Pathogenic	ClinVar	RCV000006377.6, VCV000006008.5
nssv18786567	GRCh38: NC_000004.12:g.41745972_(41746045_?)ins?	insertion	germline	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS; Haddad syndrome; Haddad syndrome	Pathogenic	ClinVar	RCV000006378.6, VCV000006008.5
nssv18786568	GRCh38: NC_000004.12:g.41745972_(41746045_?)ins?	insertion	germline	Central hypoventilation syndrome, late-onset	Pathogenic	ClinVar	RCV000006379.6, VCV000006008.5

No genotype data were submitted for this variant

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