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dbVar

Database of genomic structural variation

nsv5381800

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:3,461,768

Description:GRCh37/hg19 17p11.2(chr17:16601603-20063369) 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: 9864 SVs from 128 studies. See in: genome view

Remapped(Score: Perfect):16,698,289-20,160,056

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381800	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	16,698,289	20,160,056
nsv5381800	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	16,601,603	20,063,369

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867367	copy number gain	Multiple	Multiple	Chromosome 17, trisomy 17p11 2; POTOCKI-LUPSKI SYNDROME; PTLS; Potocki-Lupski Syndrome	Pathogenic	ClinVar	RCV001352635.1, VCV001047866.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867367	Remapped	Perfect	NC_000017.11:g.(?_ 16698289)_(2016005 6_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,698,289	20,160,056
nssv16867367	Submitted genomic		NC_000017.10:g.(?_ 16601603)_(2006336 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	16,601,603	20,063,369

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
nssv16867367	GRCh37: NC_000017.10:g.(?_16601603)_(20063369_?)dup	copy number gain	de novo	Chromosome 17, trisomy 17p11 2; POTOCKI-LUPSKI SYNDROME; PTLS; Potocki-Lupski Syndrome	Pathogenic	ClinVar	RCV001352635.1, VCV001047866.1

No genotype data were submitted for this variant

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