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dbVar

Database of genomic structural variation

nsv3918176

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:183,069

Description:NCBI36/hg18 3q11.2(chr3:99047291-99188219)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: 389 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):97,825,014-98,008,082

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3918176	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	97,825,014	97,845,757	97,986,685	98,008,082
nsv3918176	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	97,543,858	97,564,601	97,705,529	97,726,926
nsv3918176	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	99,026,548	99,047,291	99,188,219	99,209,616

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125483	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450464.2, VCV000400474.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125483	Remapped	Perfect	NC_000003.12:g.(97 825014_97845757)_( 97986685_98008082) dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	97,825,014	97,845,757	97,986,685	98,008,082
nssv15125483	Remapped	Perfect	NC_000003.11:g.(97 543858_97564601)_( 97705529_97726926) dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	97,543,858	97,564,601	97,705,529	97,726,926
nssv15125483	Submitted genomic		NC_000003.10:g.(99 026548_99047291)_( 99188219_99209616) dup	NCBI36 (hg18)		NC_000003.10	Chr3	99,026,548	99,047,291	99,188,219	99,209,616

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
nssv15125483	NCBI36: NC_000003.10:g.(99026548_99047291)_(99188219_99209616)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450464.2, VCV000400474.2	3

No genotype data were submitted for this variant

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