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dbVar

Database of genomic structural variation

nsv4674961

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:122,896

Description:
See descriptions for individual calls in download files
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 359 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):1,970,173-2,093,068

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
nsv4674961	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	1,970,173	1,989,295	2,084,122	2,093,068
nsv4674961	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	1,970,407	1,989,529	2,084,356	2,093,302

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208784	copy number loss	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Uncertain significance	ClinVar	RCV001004815.3, VCV000813838.2	1
nssv16297153	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV001270255.2, VCV000988608.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16208784	Remapped	Perfect	NC_000006.12:g.(19 70173_1989295)_(20 84122_2093068)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	1,970,173	1,989,295	2,084,122	2,093,068
nssv16297153	Remapped	Perfect	NC_000006.12:g.(19 70173_1989295)_(20 84122_2093068)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	1,970,173	1,989,295	2,084,122	2,093,068
nssv16208784	Submitted genomic		NC_000006.11:g.(19 70407_1989529)_(20 84356_2093302)del	GRCh37 (hg19)		NC_000006.11	Chr6	1,970,407	1,989,529	2,084,356	2,093,302
nssv16297153	Submitted genomic		NC_000006.11:g.(19 70407_1989529)_(20 84356_2093302)del	GRCh37 (hg19)		NC_000006.11	Chr6	1,970,407	1,989,529	2,084,356	2,093,302

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
nssv16208784	GRCh37: NC_000006.11:g.(1970407_1989529)_(2084356_2093302)del	copy number loss	unknown	Intellectual Disability; Intellectual disability; Intellectual disability	Uncertain significance	ClinVar	RCV001004815.3, VCV000813838.2	1
nssv16297153	GRCh37: NC_000006.11:g.(1970407_1989529)_(2084356_2093302)del	copy number loss	unknown	See cases	Uncertain significance	ClinVar	RCV001270255.2, VCV000988608.2	1

No genotype data were submitted for this variant

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