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dbVar

Database of genomic structural variation

nsv4716479

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:5,656

Description:
See descriptions for individual calls in download files
Publication(s):Gordon et al. 2003, Mori et al. 2018

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: 44 SVs from 22 studies. See in: genome view

Submitted genomic13,923,372-13,929,027

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv4716479	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000016.10	Chr16	13,923,372	13,929,027
nsv4716479	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000016.9	Chr16	14,017,229	14,022,884

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16252156	deletion	Multiple	Multiple	HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; Hutchinson-Gilford Progeria Syndrome; Hutchinson-Gilford progeria syndrome; Hutchinson-Gilford syndrome	Likely pathogenic	ClinVar	RCV001034543.1, VCV000625138.3
nssv16252262	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001194774.1, VCV000625138.3
nssv16252263	deletion	Multiple	Multiple	XFE PROGEROID SYNDROME; XFEPS; XFE progeroid syndrome	Pathogenic	ClinVar	RCV000766209.1, VCV000625138.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv16252156	Submitted genomic	NC_000016.10:g.139 23372_13929027del	GRCh38 (hg38)	NC_000016.10	Chr16	13,923,372	13,929,027
nssv16252262	Submitted genomic	NC_000016.10:g.139 23372_13929027del	GRCh38 (hg38)	NC_000016.10	Chr16	13,923,372	13,929,027
nssv16252263	Submitted genomic	NC_000016.10:g.139 23372_13929027del	GRCh38 (hg38)	NC_000016.10	Chr16	13,923,372	13,929,027
nssv16252156	Submitted genomic	NC_000016.9:g.1401 7229_14022884del	GRCh37 (hg19)	NC_000016.9	Chr16	14,017,229	14,022,884
nssv16252262	Submitted genomic	NC_000016.9:g.1401 7229_14022884del	GRCh37 (hg19)	NC_000016.9	Chr16	14,017,229	14,022,884
nssv16252263	Submitted genomic	NC_000016.9:g.1401 7229_14022884del	GRCh37 (hg19)	NC_000016.9	Chr16	14,017,229	14,022,884

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16252156	GRCh37: NC_000016.9:g.14017229_14022884del, GRCh38: NC_000016.10:g.13923372_13929027del	deletion	unknown	HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; Hutchinson-Gilford Progeria Syndrome; Hutchinson-Gilford progeria syndrome; Hutchinson-Gilford syndrome	Likely pathogenic	ClinVar	RCV001034543.1, VCV000625138.3
nssv16252262	GRCh37: NC_000016.9:g.14017229_14022884del, GRCh38: NC_000016.10:g.13923372_13929027del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001194774.1, VCV000625138.3
nssv16252263	GRCh37: NC_000016.9:g.14017229_14022884del, GRCh38: NC_000016.10:g.13923372_13929027del	deletion	germline	XFE PROGEROID SYNDROME; XFEPS; XFE progeroid syndrome	Pathogenic	ClinVar	RCV000766209.1, VCV000625138.3

No genotype data were submitted for this variant

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