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dbVar

Database of genomic structural variation

nsv4578414

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:3,095,593

Description:GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1 AND Early Onset Neurological Disease Trait

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: 4366 SVs from 82 studies. See in: genome view

Remapped(Score: Good):103,181,797-106,277,389

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4578414	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	103,181,797	106,277,389
nsv4578414	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	102,436,725	105,520,605

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091841	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000993773.2, VCV000691847.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091841	Remapped	Good	NC_000023.11:g.103 181797_106277389de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,181,797	106,277,389
nssv16091841	Submitted genomic		NC_000023.10:g.102 436725_105520605de l	GRCh37 (hg19)		NC_000023.10	ChrX	102,436,725	105,520,605

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	Copy number
nssv16091841	GRCh37: NC_000023.10:g.102436725_105520605del	copy number loss	unknown	See cases	Uncertain significance	ClinVar	RCV000993773.2, VCV000691847.2	1

No genotype data were submitted for this variant

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