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dbVar

Database of genomic structural variation

nsv958882

Organism: Homo sapiens

Study:nstd83 (Morak et al. 2013)
Variant Type:translocation
Method Type:Sequencing

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes

Description:given coordinates are the coordinates of the fusion - ETV6 fuses here to RUNX6
Publication(s):Morak et al. 2013

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Variant Region - no placement information

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv3020569	interchromosomal translocation	10	Sequencing	Sequence alignment	Childhood B Acute Lymphoblastic Leukemia	Pathogenic	Submitter	nssv3020570, nssv3020581
nssv3020570	interchromosomal translocation	10	Sequencing	Sequence alignment	Childhood B Acute Lymphoblastic Leukemia	Pathogenic	Submitter	nssv3020569, nssv3020581

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv3020569	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	4,682,122	4,682,122	+
nssv3020570	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,557,443	20,557,443	-
nssv3020569	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	4,791,288	4,791,288	+
nssv3020570	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	21,929,756	21,929,756	-

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv3020569	10	interchromosomal translocation	Childhood B Acute Lymphoblastic Leukemia	Pathogenic	Submitter	Male	nssv3020570, nssv3020581
nssv3020570	10	interchromosomal translocation	Childhood B Acute Lymphoblastic Leukemia	Pathogenic	Submitter	Male	nssv3020569, nssv3020581

No genotype data were submitted for this variant

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