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dbVar

Database of genomic structural variation

nsv3915757

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:355,037

Description:NCBI36/hg18 Xq23(chrX:115990045-116303303)x1 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: 661 SVs from 54 studies. See in: genome view

Remapped(Score: Good):116,949,236-117,304,272

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
nsv3915757	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	116,949,236	116,949,236	117,304,272	117,304,272
nsv3915757	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	116,083,204	116,106,017	116,419,275	116,438,235
nsv3915757	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	115,967,232	115,990,045	116,303,303	116,322,263

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125576	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000450649.2, VCV000401058.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125576	Remapped	Good	NC_000023.11:g.(11 6949236_116949236) _(117304272_117304 272)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,949,236	116,949,236	117,304,272	117,304,272
nssv15125576	Remapped	Perfect	NC_000023.10:g.(11 6083204_116106017) _(116419275_116438 235)del	GRCh37.p13	First Pass	NC_000023.10	ChrX	116,083,204	116,106,017	116,419,275	116,438,235
nssv15125576	Submitted genomic		NC_000023.9:g.(115 967232_115990045)_ (116303303_1163222 63)del	NCBI36 (hg18)		NC_000023.9	ChrX	115,967,232	115,990,045	116,303,303	116,322,263

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
nssv15125576	NCBI36: NC_000023.9:g.(115967232_115990045)_(116303303_116322263)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000450649.2, VCV000401058.2	1

No genotype data were submitted for this variant

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