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dbVar

Database of genomic structural variation

nsv7095480

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,013,063

Description:
See descriptions for individual calls in download files
Publication(s):Clinton et al. 2009, Frazier et al. 2014, Strauss 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: 10017 SVs from 120 studies. See in: genome view

Remapped(Score: Good):39,414,087-42,427,149

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095480	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	39,414,087	42,427,149
nsv7095480	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	39,904,727	42,931,301

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787302	duplication	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	Uncertain significance	ClinVar	RCV003122291.3, VCV002423350.8
nssv18791392	duplication	Multiple	Multiple	CRANIOSYNOSTOSIS 1; CRS1; Craniosynostosis 1; Isolated oxycephaly	Uncertain significance	ClinVar	RCV003105285.3, VCV002423350.8
nssv18791393	duplication	Multiple	Multiple	CARPENTER SYNDROME 2; CRPT2; Carpenter syndrome; Carpenter syndrome 2; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV003105286.3, VCV002423350.8
nssv18791394	duplication	Multiple	Multiple	MAPLE SYRUP URINE DISEASE; MSUD; Maple Syrup Urine Disease; Maple Syrup Urine Disease; Maple syrup urine disease; Maple syrup urine disease; Maple syrup urine disease	Uncertain significance	ClinVar	RCV003105287.3, VCV002423350.8

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787302	Remapped	Good	NC_000019.10:g.(?_ 39414087)_(4242714 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	39,414,087	42,427,149
nssv18791392	Remapped	Good	NC_000019.10:g.(?_ 39414087)_(4242714 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	39,414,087	42,427,149
nssv18791393	Remapped	Good	NC_000019.10:g.(?_ 39414087)_(4242714 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	39,414,087	42,427,149
nssv18791394	Remapped	Good	NC_000019.10:g.(?_ 39414087)_(4242714 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	39,414,087	42,427,149
nssv18787302	Submitted genomic		NC_000019.9:g.(?_3 9904727)_(42931301 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	39,904,727	42,931,301
nssv18791392	Submitted genomic		NC_000019.9:g.(?_3 9904727)_(42931301 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	39,904,727	42,931,301
nssv18791393	Submitted genomic		NC_000019.9:g.(?_3 9904727)_(42931301 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	39,904,727	42,931,301
nssv18791394	Submitted genomic		NC_000019.9:g.(?_3 9904727)_(42931301 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	39,904,727	42,931,301

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
nssv18787302	GRCh37: NC_000019.9:g.(?_39904727)_(42931301_?)dup	duplication	germline	Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia	Uncertain significance	ClinVar	RCV003122291.3, VCV002423350.8
nssv18791392	GRCh37: NC_000019.9:g.(?_39904727)_(42931301_?)dup	duplication	germline	CRANIOSYNOSTOSIS 1; CRS1; Craniosynostosis 1; Isolated oxycephaly	Uncertain significance	ClinVar	RCV003105285.3, VCV002423350.8
nssv18791393	GRCh37: NC_000019.9:g.(?_39904727)_(42931301_?)dup	duplication	germline	CARPENTER SYNDROME 2; CRPT2; Carpenter syndrome; Carpenter syndrome 2; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV003105286.3, VCV002423350.8
nssv18791394	GRCh37: NC_000019.9:g.(?_39904727)_(42931301_?)dup	duplication	germline	MAPLE SYRUP URINE DISEASE; MSUD; Maple Syrup Urine Disease; Maple Syrup Urine Disease; Maple syrup urine disease; Maple syrup urine disease; Maple syrup urine disease	Uncertain significance	ClinVar	RCV003105287.3, VCV002423350.8

No genotype data were submitted for this variant

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