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dbVar

Database of genomic structural variation

nsv3923067

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:151,993,202

Description:NCBI36/hg18 Xp22.33-q28(chrX:3688184-154582499)x3 AND See cases

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: 215228 SVs from 118 studies. See in: genome view

Remapped(Score: Good):3,751,833-155,745,034

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3923067	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	3,751,833	3,751,833	155,745,034	155,745,034
nsv3923067	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	3,669,874	3,669,874	154,974,696	154,974,696
nsv3923067	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	3,679,874	3,688,184	154,582,499	154,627,890

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129650	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453137.2, VCV000400001.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15129650	Remapped	Good	NC_000023.11:g.(37 51833_3751833)_(15 5745034_155745034) dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	3,751,833	3,751,833	155,745,034	155,745,034
nssv15129650	Remapped	Good	NC_000023.10:g.(36 69874_3669874)_(15 4974696_154974696) dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	3,669,874	3,669,874	154,974,696	154,974,696
nssv15129650	Submitted genomic		NC_000023.9:g.(367 9874_3688184)_(154 582499_154627890)d up	NCBI36 (hg18)		NC_000023.9	ChrX	3,679,874	3,688,184	154,582,499	154,627,890

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
nssv15129650	NCBI36: NC_000023.9:g.(3679874_3688184)_(154582499_154627890)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000453137.2, VCV000400001.2	3

No genotype data were submitted for this variant

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