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dbVar

Database of genomic structural variation

nsv7095699

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:219,011

Description:NC_000001.10:g.(?_11847760)_(12066770_?)dup AND Ehlers-Danlos syndrome, kyphoscoliotic type 1
Publication(s):Yeowell et al. 2000

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: 790 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):11,787,703-12,006,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095699	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	11,787,703	12,006,713
nsv7095699	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	11,847,760	12,066,770

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788952	duplication	Multiple	Multiple	EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1; Ehlers-Danlos syndrome, hydroxylysine-deficient; Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	Uncertain significance	ClinVar	RCV003110970.2, VCV002422836.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788952	Remapped	Perfect	NC_000001.11:g.(?_ 11787703)_(1200671 3_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	11,787,703	12,006,713
nssv18788952	Submitted genomic		NC_000001.10:g.(?_ 11847760)_(1206677 0_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	11,847,760	12,066,770

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
nssv18788952	GRCh37: NC_000001.10:g.(?_11847760)_(12066770_?)dup	duplication	germline	EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1; Ehlers-Danlos syndrome, hydroxylysine-deficient; Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	Uncertain significance	ClinVar	RCV003110970.2, VCV002422836.4

No genotype data were submitted for this variant

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