nsv4676132 - dbVar Variant - NCBI

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nsv4676132

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:1,202,654

Description:GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)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: 3563 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):33,378,601-34,581,254

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4676132	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	33,378,601	34,581,254
nsv4676132	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	31,966,407	33,169,058

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207423	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001007091.1, VCV000816125.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207423	Remapped	Perfect	NC_000020.11:g.(?_ 33378601)_(3458125 4_?)dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	33,378,601	34,581,254
nssv16207423	Submitted genomic		NC_000020.10:g.(?_ 31966407)_(3316905 8_?)dup	GRCh37 (hg19)		NC_000020.10	Chr20	31,966,407	33,169,058

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
nssv16207423	GRCh37: NC_000020.10:g.(?_31966407)_(33169058_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001007091.1, VCV000816125.1	3

No genotype data were submitted for this variant

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