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dbVar

Database of genomic structural variation

nsv3880866

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:83,947

Description:
GRCh37/hg19 5p15.33(chr5:151638-235584)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: 1026 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):151,523-235,469

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3880866	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	151,523	235,469
nsv3880866	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	151,638	235,584

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141737	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000446764.3, VCV000395582.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141737	Remapped	Perfect	NC_000005.10:g.(?_ 151523)_(235469_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	151,523	235,469
nssv15141737	Submitted genomic		NC_000005.9:g.(?_1 51638)_(235584_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	151,638	235,584

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
nssv15141737	GRCh37: NC_000005.9:g.(?_151638)_(235584_?)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000446764.3, VCV000395582.3	3

No genotype data were submitted for this variant

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