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dbVar

Database of genomic structural variation

nsv5380841

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:51,400

Description:
See descriptions for individual calls in download files
Publication(s):Forsythe et al. 2003, Styne et al. 2017

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: 271 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):72,686,208-72,737,607

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380841	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,686,208	72,737,607
nsv5380841	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,978,549	73,029,948

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867175	duplication	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Uncertain significance	ClinVar	RCV001341197.2, VCV001037963.2
nssv17972267	deletion	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV001972508.2, VCV001456937.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867175	Remapped	Perfect	NC_000015.10:g.(?_ 72686208)_(7273760 7_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,686,208	72,737,607
nssv17972267	Remapped	Perfect	NC_000015.10:g.(?_ 72686208)_(7273760 7_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,686,208	72,737,607
nssv16867175	Submitted genomic		NC_000015.9:g.(?_7 2978549)_(73029948 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	72,978,549	73,029,948
nssv17972267	Submitted genomic		NC_000015.9:g.(?_7 2978549)_(73029948 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	72,978,549	73,029,948

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
nssv16867175	GRCh37: NC_000015.9:g.(?_72978549)_(73029948_?)dup	duplication	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Uncertain significance	ClinVar	RCV001341197.2, VCV001037963.2
nssv17972267	GRCh37: NC_000015.9:g.(?_72978549)_(73029948_?)del	deletion	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV001972508.2, VCV001456937.2

No genotype data were submitted for this variant

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