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dbVar

Database of genomic structural variation

nsv4768371

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:5,914,500

Description:GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 AND Saethre-Chotzen syndrome
Publication(s):Gallagher et al. 2003

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: 15618 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):14,431,043-20,345,542

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4768371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	14,431,043	20,345,542
nsv4768371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	14,470,668	20,385,165

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16296935	copy number loss	Multiple	Multiple	SAETHRE-CHOTZEN SYNDROME; SCS; Saethre-Chotzen Syndrome; Saethre-Chotzen syndrome; Saethre-Chotzen syndrome	Pathogenic	ClinVar	RCV001263216.1, VCV000981203.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16296935	Remapped	Perfect	NC_000007.14:g.(?_ 14431043)_(2034554 2_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	14,431,043	20,345,542
nssv16296935	Submitted genomic		NC_000007.13:g.(?_ 14470668)_(2038516 5_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	14,470,668	20,385,165

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
nssv16296935	GRCh37: NC_000007.13:g.(?_14470668)_(20385165_?)del	copy number loss	germline	SAETHRE-CHOTZEN SYNDROME; SCS; Saethre-Chotzen Syndrome; Saethre-Chotzen syndrome; Saethre-Chotzen syndrome	Pathogenic	ClinVar	RCV001263216.1, VCV000981203.1	1

No genotype data were submitted for this variant

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