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dbVar

Database of genomic structural variation

nsv3876908

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:712,714

Description:
See descriptions for individual calls in download files
Publication(s):Clinton et al. 2009, Lu et al. 2014, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Savage et al. 2009, Schneider et al. 1999

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: 2504 SVs from 84 studies. See in: genome view

Submitted genomic7,669,603-8,382,316

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3876908	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000017.11	Chr17	7,669,603	8,382,316
nsv3876908	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000017.10	Chr17	7,572,921	8,285,634

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129238	deletion	Multiple	Multiple	Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia	Pathogenic	ClinVar	RCV000538057.3, VCV000463365.12
nssv17172644	deletion	Multiple	Multiple	Dyskeratosis Congenita; Dyskeratosis congenita; Dyskeratosis congenita; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV001382188.4, VCV000463365.12
nssv18791861	deletion	Multiple	Multiple	Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome	Pathogenic	ClinVar	RCV003105948.4, VCV000463365.12

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15129238	Submitted genomic	NC_000017.11:g.(?_ 7669603)_(8382316_ ?)del	GRCh38 (hg38)	NC_000017.11	Chr17	7,669,603	8,382,316
nssv17172644	Submitted genomic	NC_000017.11:g.(?_ 7669603)_(8382316_ ?)del	GRCh38 (hg38)	NC_000017.11	Chr17	7,669,603	8,382,316
nssv18791861	Submitted genomic	NC_000017.11:g.(?_ 7669603)_(8382316_ ?)del	GRCh38 (hg38)	NC_000017.11	Chr17	7,669,603	8,382,316
nssv15129238	Submitted genomic	NC_000017.10:g.(?_ 7572921)_(8285634_ ?)del	GRCh37 (hg19)	NC_000017.10	Chr17	7,572,921	8,285,634
nssv17172644	Submitted genomic	NC_000017.10:g.(?_ 7572921)_(8285634_ ?)del	GRCh37 (hg19)	NC_000017.10	Chr17	7,572,921	8,285,634
nssv18791861	Submitted genomic	NC_000017.10:g.(?_ 7572921)_(8285634_ ?)del	GRCh37 (hg19)	NC_000017.10	Chr17	7,572,921	8,285,634

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
nssv15129238	GRCh37: NC_000017.10:g.(?_7572921)_(8285634_?)del, GRCh38: NC_000017.11:g.(?_7669603)_(8382316_?)del	deletion	germline	Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia	Pathogenic	ClinVar	RCV000538057.3, VCV000463365.12
nssv17172644	GRCh37: NC_000017.10:g.(?_7572921)_(8285634_?)del, GRCh38: NC_000017.11:g.(?_7669603)_(8382316_?)del	deletion	germline	Dyskeratosis Congenita; Dyskeratosis congenita; Dyskeratosis congenita; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV001382188.4, VCV000463365.12
nssv18791861	GRCh37: NC_000017.10:g.(?_7572921)_(8285634_?)del, GRCh38: NC_000017.11:g.(?_7669603)_(8382316_?)del	deletion	germline	Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome	Pathogenic	ClinVar	RCV003105948.4, VCV000463365.12

No genotype data were submitted for this variant

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