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dbVar

Database of genomic structural variation

nsv3872834

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:21,257

Description:GRCh37/hg19 1q23.3(chr1:161255241-161276497) AND Charcot-Marie-Tooth disease type 4E

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: 195 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):161,285,451-161,306,707

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3872834	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	161,285,451	161,306,707
nsv3872834	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	161,255,241	161,276,497

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15147761	copy number loss	Multiple	Multiple	Charcot-Marie-Tooth disease type 4E; Congenital hypomyelinating neuropathy 1, autosomal recessive; NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1	Pathogenic	ClinVar	RCV000415266.1, VCV000374304.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv15147761	Remapped	Perfect	NC_000001.11:g.(16 1285451_?)_(?_1613 06707)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	161,285,451	161,306,707
nssv15147761	Submitted genomic		NC_000001.10:g.(16 1255241_?)_(?_1612 76497)del	GRCh37 (hg19)		NC_000001.10	Chr1	161,255,241	161,276,497

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
nssv15147761	GRCh37: NC_000001.10:g.(161255241_?)_(?_161276497)del	copy number loss	unknown	Charcot-Marie-Tooth disease type 4E; Congenital hypomyelinating neuropathy 1, autosomal recessive; NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1	Pathogenic	ClinVar	RCV000415266.1, VCV000374304.1

No genotype data were submitted for this variant

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