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dbVar

Database of genomic structural variation

nsv3896149

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:2,765

Description:GRCh37/hg19 17p13.3(chr17:2399614-2402378)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: 150 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):2,496,320-2,499,084

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3896149	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	2,496,320	2,499,084
nsv3896149	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	2,399,614	2,402,378

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15173329	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000751900.2, VCV000615264.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15173329	Remapped	Perfect	NC_000017.11:g.(?_ 2496320)_(2499084_ ?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	2,496,320	2,499,084
nssv15173329	Submitted genomic		NC_000017.10:g.(?_ 2399614)_(2402378_ ?)del	GRCh37 (hg19)		NC_000017.10	Chr17	2,399,614	2,402,378

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
nssv15173329	GRCh37: NC_000017.10:g.(?_2399614)_(2402378_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000751900.2, VCV000615264.2	1

No genotype data were submitted for this variant

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