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

dbVar

Database of genomic structural variation

nsv7093772

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:355,062

Description:NC_000011.9:g.(?_61197619)_(61552680_?)del AND Hereditary pheochromocytoma-paraganglioma
Publication(s):Chen et al. 2010, Else et al. 2008, Fishbein et al. 2021, Lenders et al. 2014, Lu et al. 2014, No authors et al. 2021, No authors et al. 2021, Reaume 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:

Overlapping variant regions from other studies: 779 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):61,430,147-61,785,208

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093772	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	61,430,147	61,785,208
nsv7093772	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	61,197,619	61,552,680

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786889	deletion	Multiple	Multiple	Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paraganglioma-Pheochromocytoma Syndromes	Pathogenic	ClinVar	RCV003119804.2, VCV002426363.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786889	Remapped	Perfect	NC_000011.10:g.(?_ 61430147)_(6178520 8_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	61,430,147	61,785,208
nssv18786889	Submitted genomic		NC_000011.9:g.(?_6 1197619)_(61552680 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	61,197,619	61,552,680

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
nssv18786889	GRCh37: NC_000011.9:g.(?_61197619)_(61552680_?)del	deletion	germline	Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paraganglioma-Pheochromocytoma Syndromes	Pathogenic	ClinVar	RCV003119804.2, VCV002426363.2

No genotype data were submitted for this variant

You are here: NCBI