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dbVar

Database of genomic structural variation

nsv3906396

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:888,477

Description:GRCh37/hg19 12q14.1(chr12:61060570-61949046)x1 AND not provided

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: 2530 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):60,666,789-61,555,265

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3906396	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	60,666,789	61,555,265
nsv3906396	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	61,060,570	61,949,046

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15154611	copy number loss	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000683453.1, VCV000563964.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15154611	Remapped	Perfect	NC_000012.12:g.(?_ 60666789)_(6155526 5_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	60,666,789	61,555,265
nssv15154611	Submitted genomic		NC_000012.11:g.(?_ 61060570)_(6194904 6_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	61,060,570	61,949,046

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
nssv15154611	GRCh37: NC_000012.11:g.(?_61060570)_(61949046_?)del	copy number loss	germline	not provided	Likely benign	ClinVar	RCV000683453.1, VCV000563964.1	1

No genotype data were submitted for this variant

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