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dbVar

Database of genomic structural variation

nsv7137103

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:3,706,046

Description:GRCh37/hg19 17p11.2(chr17:16664739-20370783) AND Potocki-Lupski syndrome
Publication(s):Potocki et al. 2017

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: 10420 SVs from 129 studies. See in: genome view

Remapped(Score: Perfect):16,761,425-20,467,470

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137103	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	16,761,425	20,467,470
nsv7137103	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	16,664,739	20,370,783

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830823	copy number gain	Multiple	Multiple	Chromosome 17, trisomy 17p11 2; POTOCKI-LUPSKI SYNDROME; PTLS; Potocki-Lupski Syndrome	Pathogenic	ClinVar	RCV003236713.1, VCV002506529.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830823	Remapped	Perfect	NC_000017.11:g.(?_ 16761425)_(2046747 0_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,761,425	20,467,470
nssv18830823	Submitted genomic		NC_000017.10:g.(?_ 16664739)_(2037078 3_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	16,664,739	20,370,783

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
nssv18830823	GRCh37: NC_000017.10:g.(?_16664739)_(20370783_?)dup	copy number gain	germline	Chromosome 17, trisomy 17p11 2; POTOCKI-LUPSKI SYNDROME; PTLS; Potocki-Lupski Syndrome	Pathogenic	ClinVar	RCV003236713.1, VCV002506529.1

No genotype data were submitted for this variant

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