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dbVar

Database of genomic structural variation

nsv4452248

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:23,544

Description:
See descriptions for individual calls in download files
Publication(s):Hampel et al. 2014, No authors et al. 2021, No authors et al. 2021, Reaume et al. 2013, Toro et al. 2006

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: 207 SVs from 40 studies. See in: genome view

Submitted genomic17,213,645-17,237,188

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv4452248	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000017.11	Chr17	17,213,645	17,237,188
nsv4452248	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000017.10	Chr17	17,116,959	17,140,502

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15769983	duplication	Multiple	Multiple	BIRT-HOGG-DUBE SYNDROME; BHD; Birt-Hogg-Dubé Syndrome; Birt-Hogg-Dubé syndrome; Multiple fibrofolliculomas; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV000792143.1, VCV000639366.1
nssv15770104	deletion	Multiple	Multiple	BIRT-HOGG-DUBE SYNDROME; BHD; Birt-Hogg-Dubé Syndrome; Birt-Hogg-Dubé syndrome; Multiple fibrofolliculomas; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000796125.1, VCV000642628.1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15769983	Submitted genomic	NC_000017.11:g.(?_ 17213645)_(1723718 8_?)dup	GRCh38 (hg38)	NC_000017.11	Chr17	17,213,645	17,237,188
nssv15770104	Submitted genomic	NC_000017.11:g.(?_ 17213645)_(1723718 8_?)del	GRCh38 (hg38)	NC_000017.11	Chr17	17,213,645	17,237,188
nssv15769983	Submitted genomic	NC_000017.10:g.(?_ 17116959)_(1714050 2_?)dup	GRCh37 (hg19)	NC_000017.10	Chr17	17,116,959	17,140,502
nssv15770104	Submitted genomic	NC_000017.10:g.(?_ 17116959)_(1714050 2_?)del	GRCh37 (hg19)	NC_000017.10	Chr17	17,116,959	17,140,502

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
nssv15769983	GRCh37: NC_000017.10:g.(?_17116959)_(17140502_?)dup, GRCh38: NC_000017.11:g.(?_17213645)_(17237188_?)dup	duplication	germline	BIRT-HOGG-DUBE SYNDROME; BHD; Birt-Hogg-Dubé Syndrome; Birt-Hogg-Dubé syndrome; Multiple fibrofolliculomas; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV000792143.1, VCV000639366.1
nssv15770104	GRCh37: NC_000017.10:g.(?_17116959)_(17140502_?)del, GRCh38: NC_000017.11:g.(?_17213645)_(17237188_?)del	deletion	germline	BIRT-HOGG-DUBE SYNDROME; BHD; Birt-Hogg-Dubé Syndrome; Birt-Hogg-Dubé syndrome; Multiple fibrofolliculomas; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000796125.1, VCV000642628.1

No genotype data were submitted for this variant

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