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dbVar

Database of genomic structural variation

nsv3916821

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:39,082,335

Description:NCBI36/hg18 2p16.3-11.2(chr2:47701031-86783356)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: 96641 SVs from 137 studies. See in: genome view

Remapped(Score: Perfect):47,620,388-86,702,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3916821	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,620,388	86,702,722
nsv3916821	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	47,847,527	86,929,845
nsv3916821	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	47,701,031	86,783,356

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15143557	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511402.2, VCV000443790.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15143557	Remapped	Perfect	NC_000002.12:g.(?_ 47620388)_(8670272 2_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,620,388	86,702,722
nssv15143557	Remapped	Perfect	NC_000002.11:g.(?_ 47847527)_(8692984 5_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	47,847,527	86,929,845
nssv15143557	Submitted genomic		NC_000002.10:g.(?_ 47701031)_(8678335 6_?)dup	NCBI36 (hg18)		NC_000002.10	Chr2	47,701,031	86,783,356

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
nssv15143557	NCBI36: NC_000002.10:g.(?_47701031)_(86783356_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000511402.2, VCV000443790.2	3

No genotype data were submitted for this variant

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