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dbVar

Database of genomic structural variation

nsv3898751

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:63,253

Description:GRCh37/hg19 18p11.21(chr18:12361945-12425197)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: 351 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):12,361,946-12,425,198

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3898751	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	12,361,946	12,425,198
nsv3898751	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	12,361,945	12,425,197

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15155562	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000683973.2, VCV000564484.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15155562	Remapped	Perfect	NC_000018.10:g.(?_ 12361946)_(1242519 8_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	12,361,946	12,425,198
nssv15155562	Submitted genomic		NC_000018.9:g.(?_1 2361945)_(12425197 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	12,361,945	12,425,197

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
nssv15155562	GRCh37: NC_000018.9:g.(?_12361945)_(12425197_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV000683973.2, VCV000564484.2	1

No genotype data were submitted for this variant

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