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dbVar

Database of genomic structural variation

nsv5381757

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:10,961,446

Description:GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367) AND Poor motor coordination

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: 33243 SVs from 128 studies. See in: genome view

Remapped(Score: Perfect):33,139,719-44,101,164

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381757	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	33,139,719	44,101,164
nsv5381757	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	33,608,925	44,570,367

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867366	copy number loss	Multiple	Multiple	Poor motor coordination; Poor motor coordination	Pathogenic	ClinVar	RCV001352634.1, VCV001047865.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867366	Remapped	Perfect	NC_000014.9:g.(?_3 3139719)_(44101164 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	33,139,719	44,101,164
nssv16867366	Submitted genomic		NC_000014.8:g.(?_3 3608925)_(44570367 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	33,608,925	44,570,367

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
nssv16867366	GRCh37: NC_000014.8:g.(?_33608925)_(44570367_?)del	copy number loss	de novo	Poor motor coordination; Poor motor coordination	Pathogenic	ClinVar	RCV001352634.1, VCV001047865.1

No genotype data were submitted for this variant

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