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dbVar

Database of genomic structural variation

nsv7094253

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:530

Description:NC_000014.8:g.(?_50585062)_(50585591_?)del AND Noonan syndrome 9
Publication(s):Allanson et al. 2001

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: 76 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):50,118,344-50,118,873

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094253	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	50,118,344	50,118,873
nsv7094253	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	50,585,062	50,585,591

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788642	deletion	Multiple	Multiple	NOONAN SYNDROME 9; NS9; Noonan Syndrome; Noonan syndrome; Noonan syndrome 9	Uncertain significance	ClinVar	RCV003109595.2, VCV002425671.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788642	Remapped	Perfect	NC_000014.9:g.(?_5 0118344)_(50118873 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	50,118,344	50,118,873
nssv18788642	Submitted genomic		NC_000014.8:g.(?_5 0585062)_(50585591 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	50,585,062	50,585,591

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
nssv18788642	GRCh37: NC_000014.8:g.(?_50585062)_(50585591_?)del	deletion	germline	NOONAN SYNDROME 9; NS9; Noonan Syndrome; Noonan syndrome; Noonan syndrome 9	Uncertain significance	ClinVar	RCV003109595.2, VCV002425671.2

No genotype data were submitted for this variant

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