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dbVar

Database of genomic structural variation

nsv7095630

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:10,009

Description:NC_000001.10:g.(?_6527623)_(6537631_?)dup AND multiple conditions

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: 246 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):6,467,563-6,477,571

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	6,467,563	6,477,571
nsv7095630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	6,527,623	6,537,631

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788758	duplication	Multiple	Multiple	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C; Autosomal recessive lower motor neuron disease with childhood onset; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC; Charcot-Marie-Tooth disease, recessive intermediate c; Distal spinal muscular atrophy, autosomal recessive 4; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4	Uncertain significance	ClinVar	RCV003109718.2, VCV002426567.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788758	Remapped	Perfect	NC_000001.11:g.(?_ 6467563)_(6477571_ ?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	6,467,563	6,477,571
nssv18788758	Submitted genomic		NC_000001.10:g.(?_ 6527623)_(6537631_ ?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	6,527,623	6,537,631

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
nssv18788758	GRCh37: NC_000001.10:g.(?_6527623)_(6537631_?)dup	duplication	germline	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C; Autosomal recessive lower motor neuron disease with childhood onset; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC; Charcot-Marie-Tooth disease, recessive intermediate c; Distal spinal muscular atrophy, autosomal recessive 4; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4	Uncertain significance	ClinVar	RCV003109718.2, VCV002426567.3

No genotype data were submitted for this variant

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