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dbVar

Database of genomic structural variation

nsv5564450

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,294

Description:
See descriptions for individual calls in download files

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: 92 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):56,073,090-56,074,383

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564450	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	56,073,090	56,074,383
nsv5564450	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	56,985,649	56,986,942

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059289	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001370463.4, VCV001060960.4
nssv17974473	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001900352.2, VCV001373375.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059289	Remapped	Perfect	NC_000008.11:g.(?_ 56073090)_(5607438 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	56,073,090	56,074,383
nssv17974473	Remapped	Perfect	NC_000008.11:g.(?_ 56073090)_(5607438 3_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	56,073,090	56,074,383
nssv17059289	Submitted genomic		NC_000008.10:g.(?_ 56985649)_(5698694 2_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	56,985,649	56,986,942
nssv17974473	Submitted genomic		NC_000008.10:g.(?_ 56985649)_(5698694 2_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	56,985,649	56,986,942

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
nssv17059289	GRCh37: NC_000008.10:g.(?_56985649)_(56986942_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001370463.4, VCV001060960.4
nssv17974473	GRCh37: NC_000008.10:g.(?_56985649)_(56986942_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001900352.2, VCV001373375.2

No genotype data were submitted for this variant

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