Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3902317

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:2,763,388

Description:
GRCh37/hg19 20p13(chr20:61568-2824960)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: 10321 SVs from 122 studies. See in: genome view

Remapped(Score: Perfect):80,927-2,844,314

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3902317	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	80,927	2,844,314
nsv3902317	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	61,568	2,824,960

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151188	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511991.2, VCV000442743.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15151188	Remapped	Perfect	NC_000020.11:g.(?_ 80927)_(2844314_?) dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	80,927	2,844,314
nssv15151188	Submitted genomic		NC_000020.10:g.(?_ 61568)_(2824960_?) dup	GRCh37 (hg19)		NC_000020.10	Chr20	61,568	2,824,960

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
nssv15151188	GRCh37: NC_000020.10:g.(?_61568)_(2824960_?)dup	copy number gain	de novo	See cases	Uncertain significance	ClinVar	RCV000511991.2, VCV000442743.2	3

No genotype data were submitted for this variant

You are here: NCBI