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dbVar

Database of genomic structural variation

nsv5564239

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:27,420

Description:
See descriptions for individual calls in download files
Publication(s):Bird et al. 1998

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: 137 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):156,113,670-156,141,089

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564239	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	156,113,670	156,141,089
nsv5564239	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	156,083,461	156,110,880

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059558	duplication	Multiple	Multiple	Charcot-Marie-Tooth disease, type 2	Uncertain significance	ClinVar	RCV001363064.4, VCV001054543.4
nssv17172812	deletion	Multiple	Multiple	Charcot-Marie-Tooth disease, type 2	Pathogenic	ClinVar	RCV001384412.5, VCV001071868.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059558	Remapped	Perfect	NC_000001.11:g.(?_ 156113670)_(156141 089_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	156,113,670	156,141,089
nssv17172812	Remapped	Perfect	NC_000001.11:g.(?_ 156113670)_(156141 089_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	156,113,670	156,141,089
nssv17059558	Submitted genomic		NC_000001.10:g.(?_ 156083461)_(156110 880_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	156,083,461	156,110,880
nssv17172812	Submitted genomic		NC_000001.10:g.(?_ 156083461)_(156110 880_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	156,083,461	156,110,880

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
nssv17059558	GRCh37: NC_000001.10:g.(?_156083461)_(156110880_?)dup	duplication	germline	Charcot-Marie-Tooth disease, type 2	Uncertain significance	ClinVar	RCV001363064.4, VCV001054543.4
nssv17172812	GRCh37: NC_000001.10:g.(?_156083461)_(156110880_?)del	deletion	germline	Charcot-Marie-Tooth disease, type 2	Pathogenic	ClinVar	RCV001384412.5, VCV001071868.5

No genotype data were submitted for this variant

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