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dbVar

Database of genomic structural variation

nsv5381366

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:332,099

Description:
See descriptions for individual calls in download files

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: 822 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):127,633,035-127,965,133

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381366	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	127,633,035	127,965,133
nsv5381366	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	128,554,190	128,886,288

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867295	duplication	Multiple	Multiple	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV001346938.1, VCV001042914.4
nssv18787066	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003120576.1, VCV001042914.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867295	Remapped	Perfect	NC_000004.12:g.(?_ 127633035)_(127965 133_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	127,633,035	127,965,133
nssv18787066	Remapped	Perfect	NC_000004.12:g.(?_ 127633035)_(127965 133_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	127,633,035	127,965,133
nssv16867295	Submitted genomic		NC_000004.11:g.(?_ 128554190)_(128886 288_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	128,554,190	128,886,288
nssv18787066	Submitted genomic		NC_000004.11:g.(?_ 128554190)_(128886 288_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	128,554,190	128,886,288

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
nssv16867295	GRCh37: NC_000004.11:g.(?_128554190)_(128886288_?)dup	duplication	germline	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV001346938.1, VCV001042914.4
nssv18787066	GRCh37: NC_000004.11:g.(?_128554190)_(128886288_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003120576.1, VCV001042914.4

No genotype data were submitted for this variant

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