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dbVar

Database of genomic structural variation

nsv7148151

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:1,258,672

Description:GRCh38/hg38 17q12(chr17:36486532-37745203)x1 AND Chromosome 17q12 deletion syndrome
Publication(s):Mitchel et al. 2016

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: 3778 SVs from 99 studies. See in: genome view

Submitted genomic36,486,532-37,745,203

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148151	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	36,486,532	37,745,203
nsv7148151	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	34,900,240	35,888,667

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842018	copy number loss	Multiple	Multiple	17q12 Recurrent Deletion Syndrome; CHROMOSOME 17q12 DELETION SYNDROME; Chromosome 17q12 deletion syndrome	Pathogenic	ClinVar	RCV003327643.2, VCV002579204.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18842018	Submitted genomic		NC_000017.11:g.364 86532_37745203del	GRCh38 (hg38)		NC_000017.11	Chr17	36,486,532	37,745,203
nssv18842018	Remapped	Pass	NC_000017.10:g.349 00240_35888667del	GRCh37.p13	First Pass	NC_000017.10	Chr17	34,900,240	35,888,667

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
nssv18842018	GRCh38: NC_000017.11:g.36486532_37745203del	copy number loss	de novo	17q12 Recurrent Deletion Syndrome; CHROMOSOME 17q12 DELETION SYNDROME; Chromosome 17q12 deletion syndrome	Pathogenic	ClinVar	RCV003327643.2, VCV002579204.1	1

No genotype data were submitted for this variant

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