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dbVar

Database of genomic structural variation

nsv4349508

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:7,918,015

Description:GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) AND Distal 10q deletion syndrome

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: 19962 SVs from 128 studies. See in: genome view

Remapped(Score: Perfect):115,265,276-123,183,290

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4349508	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	115,265,276	123,183,290
nsv4349508	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	117,024,753	124,942,806

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605779	copy number loss	Multiple	Multiple	CHROMOSOME 10q26 DELETION SYNDROME; Chromosome 10q26 deletion syndrome; Distal monosomy 10q	Pathogenic	ClinVar	RCV000767564.1, VCV000625556.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605779	Remapped	Perfect	NC_000010.11:g.(?_ 115265276)_(123183 290_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	115,265,276	123,183,290
nssv15605779	Submitted genomic		NC_000010.10:g.(?_ 117024753)_(124942 806_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	117,024,753	124,942,806

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
nssv15605779	GRCh37: NC_000010.10:g.(?_117024753)_(124942806_?)del	copy number loss	germline	CHROMOSOME 10q26 DELETION SYNDROME; Chromosome 10q26 deletion syndrome; Distal monosomy 10q	Pathogenic	ClinVar	RCV000767564.1, VCV000625556.1

No genotype data were submitted for this variant

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