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dbVar

Database of genomic structural variation

nsv5381190

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:1,714,682

Description:NC_000018.9:g.(?_55225777)_(56940458_?)del AND not provided

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: 5275 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):57,558,545-59,273,226

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381190	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	57,558,545	59,273,226
nsv5381190	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	55,225,777	56,940,458

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867148	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001339457.1, VCV001036444.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867148	Remapped	Perfect	NC_000018.10:g.(?_ 57558545)_(5927322 6_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,558,545	59,273,226
nssv16867148	Submitted genomic		NC_000018.9:g.(?_5 5225777)_(56940458 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	55,225,777	56,940,458

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
nssv16867148	GRCh37: NC_000018.9:g.(?_55225777)_(56940458_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001339457.1, VCV001036444.1

No genotype data were submitted for this variant

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