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dbVar

Database of genomic structural variation

nsv4682442

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:48,980

Description:
See descriptions for individual calls in download files
Publication(s):Varon et al. 1999

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: 215 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):89,935,582-89,984,561

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682442	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	89,935,582	89,984,561
nsv4682442	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	90,947,810	90,996,789

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212544	deletion	Multiple	Multiple	Microcephaly, normal intelligence and immunodeficiency; NIJMEGEN BREAKAGE SYNDROME; NBS; Nijmegen Breakage Syndrome; Nijmegen breakage syndrome	Pathogenic	ClinVar	RCV001033478.2, VCV000833016.2
nssv16213032	duplication	Multiple	Multiple	Microcephaly, normal intelligence and immunodeficiency; NIJMEGEN BREAKAGE SYNDROME; NBS; Nijmegen Breakage Syndrome; Nijmegen breakage syndrome	Uncertain significance	ClinVar	RCV001031060.2, VCV000830424.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212544	Remapped	Perfect	NC_000008.11:g.(?_ 89935582)_(8998456 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	89,935,582	89,984,561
nssv16213032	Remapped	Perfect	NC_000008.11:g.(?_ 89935582)_(8998456 1_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	89,935,582	89,984,561
nssv16212544	Submitted genomic		NC_000008.10:g.(?_ 90947810)_(9099678 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	90,947,810	90,996,789
nssv16213032	Submitted genomic		NC_000008.10:g.(?_ 90947810)_(9099678 9_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	90,947,810	90,996,789

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
nssv16212544	GRCh37: NC_000008.10:g.(?_90947810)_(90996789_?)del	deletion	germline	Microcephaly, normal intelligence and immunodeficiency; NIJMEGEN BREAKAGE SYNDROME; NBS; Nijmegen Breakage Syndrome; Nijmegen breakage syndrome	Pathogenic	ClinVar	RCV001033478.2, VCV000833016.2
nssv16213032	GRCh37: NC_000008.10:g.(?_90947810)_(90996789_?)dup	duplication	germline	Microcephaly, normal intelligence and immunodeficiency; NIJMEGEN BREAKAGE SYNDROME; NBS; Nijmegen Breakage Syndrome; Nijmegen breakage syndrome	Uncertain significance	ClinVar	RCV001031060.2, VCV000830424.2

No genotype data were submitted for this variant

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