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dbVar

Database of genomic structural variation

nsv5564233

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:264,677

Description:Single allele AND Syndromic craniosynostosis

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: 519 SVs from 60 studies. See in: genome view

Submitted genomic42,032,860-42,297,536

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5564233	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	42,032,860	42,297,536
nsv5564233	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	42,537,012	42,801,688

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059600	deletion	Multiple	Multiple	Syndromic craniosynostosis	Pathogenic	ClinVar	RCV001374689.1, VCV001064660.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17059600	Submitted genomic		NC_000019.10:g.420 32860_42297536del	GRCh38 (hg38)		NC_000019.10	Chr19	42,032,860	42,297,536
nssv17059600	Remapped	Perfect	NC_000019.9:g.4253 7012_42801688del	GRCh37.p13	First Pass	NC_000019.9	Chr19	42,537,012	42,801,688

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
nssv17059600	GRCh38: NC_000019.10:g.42032860_42297536del	deletion	de novo	Syndromic craniosynostosis	Pathogenic	ClinVar	RCV001374689.1, VCV001064660.1

No genotype data were submitted for this variant

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