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dbVar

Database of genomic structural variation

nsv3920198

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:968,834

Description:NCBI36/hg18 11q11(chr11:54840643-55754333)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: 5135 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):55,283,286-56,252,119

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
nsv3920198	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	55,283,286	55,316,591	56,230,281	56,252,119
nsv3920198	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	55,050,762	55,084,067	55,997,757	56,019,595
nsv3920198	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	54,807,338	54,840,643	55,754,333	55,776,171

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127217	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000450531.2, VCV000401138.2	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
nssv15127217	Remapped	Perfect	NC_000011.10:g.(55 283286_55316591)_( 56230281_56252119) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,283,286	55,316,591	56,230,281	56,252,119
nssv15127217	Remapped	Perfect	NC_000011.9:g.(550 50762_55084067)_(5 5997757_56019595)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	55,050,762	55,084,067	55,997,757	56,019,595
nssv15127217	Submitted genomic		NC_000011.8:g.(548 07338_54840643)_(5 5754333_55776171)d up	NCBI36 (hg18)		NC_000011.8	Chr11	54,807,338	54,840,643	55,754,333	55,776,171

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
nssv15127217	NCBI36: NC_000011.8:g.(54807338_54840643)_(55754333_55776171)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000450531.2, VCV000401138.2	3

No genotype data were submitted for this variant

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