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dbVar

Database of genomic structural variation

nsv7097141

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:46,655

Description:NC_000005.9:g.(?_36195246)_(36241900_?)dup AND Progressive encephalopathy with leukodystrophy due to DECR deficiency

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: 136 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):36,195,144-36,241,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	36,195,144	36,241,798
nsv7097141	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	36,195,246	36,241,900

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787514	duplication	Multiple	Multiple	2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD; 2,4-Dienoyl-CoA reductase deficiency; Progressive encephalopathy with leukodystrophy due to DECR deficiency	Uncertain significance	ClinVar	RCV003122512.1, VCV002423680.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787514	Remapped	Perfect	NC_000005.10:g.(?_ 36195144)_(3624179 8_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	36,195,144	36,241,798
nssv18787514	Submitted genomic		NC_000005.9:g.(?_3 6195246)_(36241900 _?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	36,195,246	36,241,900

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
nssv18787514	GRCh37: NC_000005.9:g.(?_36195246)_(36241900_?)dup	duplication	germline	2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD; 2,4-Dienoyl-CoA reductase deficiency; Progressive encephalopathy with leukodystrophy due to DECR deficiency	Uncertain significance	ClinVar	RCV003122512.1, VCV002423680.2

No genotype data were submitted for this variant

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