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dbVar

Database of genomic structural variation

nsv7148088

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:2,566,293

Description:GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 AND Developmental delay with or without intellectual impairment or behavioral abnormalities

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: 6766 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):26,936,481-29,502,773

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7148088	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	26,936,481	29,502,773
nsv7148088	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	25,263,507	27,829,791

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842070	copy number gain	Multiple	Multiple	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB; Developmental delay with or without intellectual impairment or behavioral abnormalities	Uncertain significance	ClinVar	RCV003329553.1, VCV002580348.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18842070	Remapped	Perfect	NC_000017.11:g.(?_ 26936481)_(2950277 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	26,936,481	29,502,773
nssv18842070	Submitted genomic		NC_000017.10:g.(?_ 25263507)_(2782979 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	25,263,507	27,829,791

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
nssv18842070	GRCh37: NC_000017.10:g.(?_25263507)_(27829791_?)dup	copy number gain	unknown	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB; Developmental delay with or without intellectual impairment or behavioral abnormalities	Uncertain significance	ClinVar	RCV003329553.1, VCV002580348.1	3

No genotype data were submitted for this variant

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