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dbVar

Database of genomic structural variation

nsv6315434

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:649,673

Description:GRCh37/hg19 7q35(chr7:143425718-144075390)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: 2920 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):143,728,625-144,378,297

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6315434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	143,728,625	-	-	144,378,297
nsv6315434	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	-	1	409,704	-
nsv6315434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	143,425,718	-	-	144,075,390

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976820	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV002286335.1, VCV001707419.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17976820	Remapped	Pass	NW_018654715.1:g.( ?_1)_(409704_?)del	GRCh38.p12	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	-	1	409,704	-
nssv17976820	Remapped	Perfect	NC_000007.14:g.(14 3728625_?)_(?_1443 78297)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	143,728,625	-	-	144,378,297
nssv17976820	Submitted genomic		NC_000007.13:g.(14 3425718_?)_(?_1440 75390)del	GRCh37 (hg19)		NC_000007.13	Chr7	143,425,718	-	-	144,075,390

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
nssv17976820	GRCh37: NC_000007.13:g.(143425718_?)_(?_144075390)del	copy number loss	unknown	See cases	Uncertain significance	ClinVar	RCV002286335.1, VCV001707419.1	1

No genotype data were submitted for this variant

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