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dbVar

Database of genomic structural variation

nsv7094352

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:521,119

Description:NC_000014.8:g.(?_95078677)_(95599795_?)dup AND DICER1 syndrome
Publication(s):Doros et al. 2014

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: 1570 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):94,612,340-95,133,458

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094352	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	94,612,340	95,133,458
nsv7094352	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	95,078,677	95,599,795

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790222	duplication	Multiple	Multiple	DICER1-Related Disorders; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	Uncertain significance	ClinVar	RCV003113883.2, VCV002427553.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790222	Remapped	Perfect	NC_000014.9:g.(?_9 4612340)_(95133458 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	94,612,340	95,133,458
nssv18790222	Submitted genomic		NC_000014.8:g.(?_9 5078677)_(95599795 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	95,078,677	95,599,795

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
nssv18790222	GRCh37: NC_000014.8:g.(?_95078677)_(95599795_?)dup	duplication	germline	DICER1-Related Disorders; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	Uncertain significance	ClinVar	RCV003113883.2, VCV002427553.2

No genotype data were submitted for this variant

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