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dbVar

Database of genomic structural variation

nsv6112822

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:28,058

Description:GRCh38/hg38 16q21(chr16:57904875-57923272)x3 AND Retinitis pigmentosa 45
Publication(s):Fahim et al. 2000

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: 107 SVs from 29 studies. See in: genome view

Submitted genomic57,903,821-57,931,878

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6112822	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	57,903,821	57,904,875	57,923,272	57,931,878
nsv6112822	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	57,937,725	57,938,779	57,957,176	57,965,782

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17650000	copy number gain	Multiple	Multiple	RETINITIS PIGMENTOSA 45; RP45; Retinitis pigmentosa; Retinitis pigmentosa 45	Uncertain significance	ClinVar	RCV001543342.2, VCV001184809.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17650000	Submitted genomic		NC_000016.10:g.(57 903821_57904875)_( 57923272_57931878) dup	GRCh38 (hg38)		NC_000016.10	Chr16	57,903,821	57,904,875	57,923,272	57,931,878
nssv17650000	Remapped	Perfect	NC_000016.9:g.(579 37725_57938779)_(5 7957176_57965782)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	57,937,725	57,938,779	57,957,176	57,965,782

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	Copy number
nssv17650000	GRCh38: NC_000016.10:g.(57903821_57904875)_(57923272_57931878)dup	copy number gain	paternal	RETINITIS PIGMENTOSA 45; RP45; Retinitis pigmentosa; Retinitis pigmentosa 45	Uncertain significance	ClinVar	RCV001543342.2, VCV001184809.2	3

No genotype data were submitted for this variant

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