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dbVar

Database of genomic structural variation

nsv7148187

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:130,249

Description:GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1 AND Skraban-Deardorff syndrome
Publication(s):Skraban et al. 2019

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: 481 SVs from 47 studies. See in: genome view

Submitted genomic224,304,638-224,434,886

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148187	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	224,304,638	224,434,886
nsv7148187	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	224,492,340	224,622,588

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841837	copy number loss	Multiple	Multiple	SKRABAN-DEARDORFF SYNDROME; SKDEAS; Skraban-Deardorff syndrome; WDR26-Related Intellectual Disability	Pathogenic	ClinVar	RCV003327628.1, VCV002579189.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841837	Submitted genomic		NC_000001.11:g.224 304638_224434886de l	GRCh38 (hg38)		NC_000001.11	Chr1	224,304,638	224,434,886
nssv18841837	Remapped	Perfect	NC_000001.10:g.224 492340_224622588de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	224,492,340	224,622,588

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
nssv18841837	GRCh38: NC_000001.11:g.224304638_224434886del	copy number loss	de novo	SKRABAN-DEARDORFF SYNDROME; SKDEAS; Skraban-Deardorff syndrome; WDR26-Related Intellectual Disability	Pathogenic	ClinVar	RCV003327628.1, VCV002579189.1	1

No genotype data were submitted for this variant

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