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dbVar

Database of genomic structural variation

nsv4454993

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:320,391

Description:GRCh37/hg19 2p23.2(chr2:28980521-29300911)x3 AND not provided

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: 1007 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):28,757,655-29,078,045

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4454993	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	28,757,655	29,078,045
nsv4454993	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	28,980,521	29,300,911

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775149	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846893.2, VCV000686185.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775149	Remapped	Perfect	NC_000002.12:g.(?_ 28757655)_(2907804 5_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,757,655	29,078,045
nssv15775149	Submitted genomic		NC_000002.11:g.(?_ 28980521)_(2930091 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	28,980,521	29,300,911

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
nssv15775149	GRCh37: NC_000002.11:g.(?_28980521)_(29300911_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000846893.2, VCV000686185.2	3

No genotype data were submitted for this variant

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