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dbVar

Database of genomic structural variation

nsv7148119

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:1,298,472

Description:GRCh37/hg19 17q12(chr17:34752221-36105007)x3 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: 3873 SVs from 99 studies. See in: genome view

Remapped(Score: Good):36,446,545-37,745,016

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7148119	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000017.11	Chr17	36,446,545	37,745,016
nsv7148119	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	694,163	1,984,072
nsv7148119	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	34,752,221	36,105,007

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842005	copy number gain	Multiple	Multiple	17q12 Recurrent Deletion Syndrome; CHROMOSOME 17q12 DELETION SYNDROME; Chromosome 17q12 deletion syndrome	Pathogenic	ClinVar	RCV003329520.1, VCV002580315.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18842005	Remapped	Good	NT_187614.1:g.(?_6 94163)_(1984072_?) dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	694,163	1,984,072
nssv18842005	Remapped	Good	NC_000017.11:g.(?_ 36446545)_(3774501 6_?)dup	GRCh38.p12	Second Pass	NC_000017.11	Chr17	36,446,545	37,745,016
nssv18842005	Submitted genomic		NC_000017.10:g.(?_ 34752221)_(3610500 7_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	34,752,221	36,105,007

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
nssv18842005	GRCh37: NC_000017.10:g.(?_34752221)_(36105007_?)dup	copy number gain	unknown	17q12 Recurrent Deletion Syndrome; CHROMOSOME 17q12 DELETION SYNDROME; Chromosome 17q12 deletion syndrome	Pathogenic	ClinVar	RCV003329520.1, VCV002580315.1	3

No genotype data were submitted for this variant

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