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dbVar

Database of genomic structural variation

nsv6315402

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:14,627,168

Description:GRCh37/hg19 6q12-14.1(chr6:64954687-79581678) AND Chromosome 6q11-q14 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: 43578 SVs from 132 studies. See in: genome view

Remapped(Score: Good):64,244,794-78,871,961

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315402	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	64,244,794	78,871,961
nsv6315402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	64,954,687	79,581,678

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976865	copy number loss	Multiple	Multiple	CHROMOSOME 6q11-q14 DELETION SYNDROME; Chromosome 6q11-q14 deletion syndrome	Pathogenic	ClinVar	RCV002280752.1, VCV001703664.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976865	Remapped	Good	NC_000006.12:g.(?_ 64244794)_(7887196 1_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	64,244,794	78,871,961
nssv17976865	Submitted genomic		NC_000006.11:g.(?_ 64954687)_(7958167 8_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	64,954,687	79,581,678

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
nssv17976865	GRCh37: NC_000006.11:g.(?_64954687)_(79581678_?)del	copy number loss	unknown	CHROMOSOME 6q11-q14 DELETION SYNDROME; Chromosome 6q11-q14 deletion syndrome	Pathogenic	ClinVar	RCV002280752.1, VCV001703664.1

No genotype data were submitted for this variant

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