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dbVar

Database of genomic structural variation

nsv5381191

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:325,842

Description:NC_000018.9:g.(?_59805466)_(60131307_?)dup AND Multiple congenital anomalies-hypotonia-seizures syndrome 1

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: 748 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):62,138,233-62,464,074

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381191	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	62,138,233	62,464,074
nsv5381191	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	59,805,466	60,131,307

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866480	duplication	Multiple	Multiple	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1; Multiple congenital anomalies-hypotonia-seizures syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome 1	Uncertain significance	ClinVar	RCV001309949.1, VCV001012055.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866480	Remapped	Perfect	NC_000018.10:g.(?_ 62138233)_(6246407 4_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	62,138,233	62,464,074
nssv16866480	Submitted genomic		NC_000018.9:g.(?_5 9805466)_(60131307 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	59,805,466	60,131,307

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
nssv16866480	GRCh37: NC_000018.9:g.(?_59805466)_(60131307_?)dup	duplication	germline	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1; Multiple congenital anomalies-hypotonia-seizures syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome 1	Uncertain significance	ClinVar	RCV001309949.1, VCV001012055.1

No genotype data were submitted for this variant

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