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dbVar

Database of genomic structural variation

nsv7148190

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:711,912

Description:GRCh37/hg19 17q23.2-23.3(chr17:60705832-61417743)x1 AND Intellectual developmental disorder with autistic features and language delay, with or without seizures

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: 1624 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):62,628,471-63,340,382

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7148190	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	62,628,471	63,340,382
nsv7148190	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	60,705,832	61,417,743

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842044	copy number loss	Multiple	Multiple	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS	Uncertain significance	ClinVar	RCV003329501.1, VCV002580297.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18842044	Remapped	Perfect	NC_000017.11:g.(?_ 62628471)_(6334038 2_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	62,628,471	63,340,382
nssv18842044	Submitted genomic		NC_000017.10:g.(?_ 60705832)_(6141774 3_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	60,705,832	61,417,743

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
nssv18842044	GRCh37: NC_000017.10:g.(?_60705832)_(61417743_?)del	copy number loss	unknown	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS	Uncertain significance	ClinVar	RCV003329501.1, VCV002580297.1	1

No genotype data were submitted for this variant

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