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dbVar

Database of genomic structural variation

nsv1398675

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:1,504,323

Description:GRCh37/hg19 4q35.2(chr4:188424331-189928653)x3 AND See cases

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: 8098 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):187,503,177-189,007,499

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv1398675	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	187,503,177	189,007,499
nsv1398675	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	188,424,331	189,928,653

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv8640035	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000203436.3, VCV000219029.4	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv8640035	Remapped	Perfect	NC_000004.12:g.(?_ 187503177)_(189007 499_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	187,503,177	189,007,499
nssv8640035	Submitted genomic		NC_000004.11:g.(?_ 188424331)_(189928 653_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	188,424,331	189,928,653

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	Copy number
nssv8640035	GRCh37: NC_000004.11:g.(?_188424331)_(189928653_?)dup	copy number gain	unknown	See cases	Likely benign	ClinVar	RCV000203436.3, VCV000219029.4	3

No genotype data were submitted for this variant

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