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dbVar

Database of genomic structural variation

nsv7098609

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:162

Description:NC_000023.10:g.(?_18665301)_(18665462_?)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: 121 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):18,647,181-18,647,342

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098609	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	18,647,181	18,647,342
nsv7098609	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	18,665,301	18,665,462

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789024	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003111045.2, VCV002422908.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789024	Remapped	Perfect	NC_000023.11:g.(?_ 18647181)_(1864734 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	18,647,181	18,647,342
nssv18789024	Submitted genomic		NC_000023.10:g.(?_ 18665301)_(1866546 2_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	18,665,301	18,665,462

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
nssv18789024	GRCh37: NC_000023.10:g.(?_18665301)_(18665462_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003111045.2, VCV002422908.2

No genotype data were submitted for this variant

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