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

dbVar

Database of genomic structural variation

nsv5381195

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:261,021

Description:NC_000019.9:g.(?_33532300)_(33793320_?)dup AND Acute myeloid leukemia
Publication(s):Febbo et al. 2011, Fey et al. 2013, Heuser et al. 2020, Porter et al. 2020, Tawana et al. 2010

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: 1021 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):33,041,394-33,302,414

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381195	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	33,041,394	33,302,414
nsv5381195	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	33,532,300	33,793,320

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866788	duplication	Multiple	Multiple	Acute myeloid leukemia; Acute myeloid leukemia; Acute myeloid leukemia; CEBPA-Associated Familial Acute Myeloid Leukemia (AML); LEUKEMIA, ACUTE MYELOID; AML; Leukemia, Myeloid, Acute	Uncertain significance	ClinVar	RCV001319704.4, VCV001020169.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866788	Remapped	Perfect	NC_000019.10:g.(?_ 33041394)_(3330241 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	33,041,394	33,302,414
nssv16866788	Submitted genomic		NC_000019.9:g.(?_3 3532300)_(33793320 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	33,532,300	33,793,320

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
nssv16866788	GRCh37: NC_000019.9:g.(?_33532300)_(33793320_?)dup	duplication	germline	Acute myeloid leukemia; Acute myeloid leukemia; Acute myeloid leukemia; CEBPA-Associated Familial Acute Myeloid Leukemia (AML); LEUKEMIA, ACUTE MYELOID; AML; Leukemia, Myeloid, Acute	Uncertain significance	ClinVar	RCV001319704.4, VCV001020169.4

No genotype data were submitted for this variant

You are here: NCBI