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dbVar

Database of genomic structural variation

nsv5381819

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:inversion
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,259

Description:inv(16)(p13.3q24.3) AND Acute megakaryoblastic leukemia without down syndrome

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: 210 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):88,879,461-88,880,719

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5381819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	88,879,461	88,880,719
nsv5381819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	88,945,869	88,947,127

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16865905	inversion	Multiple	Multiple	Acute megakaryoblastic leukemia without down syndrome	Pathogenic	ClinVar	RCV001293745.1, VCV000998057.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16865905	Remapped	Perfect	NC_000016.10:g.888 79461_88880719inv	GRCh38.p12	First Pass	NC_000016.10	Chr16	88,879,461	88,880,719
nssv16865905	Submitted genomic		NC_000016.9:g.8894 5869_88947127inv	GRCh37 (hg19)		NC_000016.9	Chr16	88,945,869	88,947,127

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
nssv16865905	GRCh37: NC_000016.9:g.88945869_88947127inv	inversion	somatic	Acute megakaryoblastic leukemia without down syndrome	Pathogenic	ClinVar	RCV001293745.1, VCV000998057.1

No genotype data were submitted for this variant

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