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dbVar

Database of genomic structural variation

nsv3898101

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:1,710,598

Description:GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 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: 5448 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):28,475,372-30,185,969

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3898101	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	28,475,372	30,185,969
nsv3898101	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	28,486,693	30,197,290

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140432	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000447001.3, VCV000394291.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140432	Remapped	Perfect	NC_000016.10:g.(?_ 28475372)_(3018596 9_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	28,475,372	30,185,969
nssv15140432	Submitted genomic		NC_000016.9:g.(?_2 8486693)_(30197290 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	28,486,693	30,197,290

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
nssv15140432	GRCh37: NC_000016.9:g.(?_28486693)_(30197290_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000447001.3, VCV000394291.3	1

No genotype data were submitted for this variant

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