Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3890752

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:8,261,313

Description:GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1 AND See cases

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: 19290 SVs from 117 studies. See in: genome view

Remapped(Score: Perfect):143,754,558-152,015,870

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3890752	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	143,754,558	152,015,870
nsv3890752	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	144,075,695	152,337,005

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15150486	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000448815.3, VCV000394905.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15150486	Remapped	Perfect	NC_000006.12:g.(?_ 143754558)_(152015 870_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	143,754,558	152,015,870
nssv15150486	Submitted genomic		NC_000006.11:g.(?_ 144075695)_(152337 005_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	144,075,695	152,337,005

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
nssv15150486	GRCh37: NC_000006.11:g.(?_144075695)_(152337005_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000448815.3, VCV000394905.3	1

No genotype data were submitted for this variant

You are here: NCBI