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dbVar

Database of genomic structural variation

nsv3891963

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:8,348,977

Description:GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)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: 38130 SVs from 128 studies. See in: genome view

Remapped(Score: Good):50,236,817-58,585,793

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3891963	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	50,236,817	58,585,793
nsv3891963	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	50,740,074	59,097,160

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15159688	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000740208.2, VCV000603572.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15159688	Remapped	Good	NC_000019.10:g.(?_ 50236817)_(5858579 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,236,817	58,585,793
nssv15159688	Submitted genomic		NC_000019.9:g.(?_5 0740074)_(59097160 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	50,740,074	59,097,160

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
nssv15159688	GRCh37: NC_000019.9:g.(?_50740074)_(59097160_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000740208.2, VCV000603572.2	3

No genotype data were submitted for this variant

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