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dbVar

Database of genomic structural variation

nsv6310362

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,822,643

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: 8510 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):57,550,712-60,373,354

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	57,550,712	60,373,354
nsv6310362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	55,217,944	58,040,587

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974811	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001922994.1, VCV001411933.1
nssv18790810	deletion	Multiple	Multiple	Isolated microphthalmia 3; Isolated microphthalmia-anophthalmia-coloboma; MICROPHTHALMIA, ISOLATED 3; MCOP3; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003116662.2, VCV002425868.5
nssv18790811	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003116663.2, VCV002425868.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974811	Remapped	Perfect	NC_000018.10:g.(?_ 57550712)_(6037335 4_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,550,712	60,373,354
nssv18790810	Remapped	Perfect	NC_000018.10:g.(?_ 57550712)_(6037335 4_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,550,712	60,373,354
nssv18790811	Remapped	Perfect	NC_000018.10:g.(?_ 57550712)_(6037335 4_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,550,712	60,373,354
nssv17974811	Submitted genomic		NC_000018.9:g.(?_5 5217944)_(58040587 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	55,217,944	58,040,587
nssv18790810	Submitted genomic		NC_000018.9:g.(?_5 5217944)_(58040587 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	55,217,944	58,040,587
nssv18790811	Submitted genomic		NC_000018.9:g.(?_5 5217944)_(58040587 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	55,217,944	58,040,587

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
nssv17974811	GRCh37: NC_000018.9:g.(?_55217944)_(58040587_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001922994.1, VCV001411933.1
nssv18790810	GRCh37: NC_000018.9:g.(?_55217944)_(58040587_?)del	deletion	germline	Isolated microphthalmia 3; Isolated microphthalmia-anophthalmia-coloboma; MICROPHTHALMIA, ISOLATED 3; MCOP3; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003116662.2, VCV002425868.5
nssv18790811	GRCh37: NC_000018.9:g.(?_55217944)_(58040587_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003116663.2, VCV002425868.5

No genotype data were submitted for this variant

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