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dbVar

Database of genomic structural variation

nsv7094682

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,387,158

Description:
See descriptions for individual calls in download files

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: 3101 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):65,787,897-67,175,054

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094682	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	65,787,897	67,175,054
nsv7094682	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	65,821,800	67,208,957

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787563	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003122561.2, VCV002424194.2
nssv18791981	deletion	Multiple	Multiple	CATARACT 5, MULTIPLE TYPES; CTRCT5; Cataract 5 multiple types; Early-onset non-syndromic cataract; Lamellar cataract; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003107427.2, VCV002424194.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787563	Remapped	Perfect	NC_000016.10:g.(?_ 65787897)_(6717505 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	65,787,897	67,175,054
nssv18791981	Remapped	Perfect	NC_000016.10:g.(?_ 65787897)_(6717505 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	65,787,897	67,175,054
nssv18787563	Submitted genomic		NC_000016.9:g.(?_6 5821800)_(67208957 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	65,821,800	67,208,957
nssv18791981	Submitted genomic		NC_000016.9:g.(?_6 5821800)_(67208957 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	65,821,800	67,208,957

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
nssv18787563	GRCh37: NC_000016.9:g.(?_65821800)_(67208957_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003122561.2, VCV002424194.2
nssv18791981	GRCh37: NC_000016.9:g.(?_65821800)_(67208957_?)del	deletion	germline	CATARACT 5, MULTIPLE TYPES; CTRCT5; Cataract 5 multiple types; Early-onset non-syndromic cataract; Lamellar cataract; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003107427.2, VCV002424194.2

No genotype data were submitted for this variant

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