Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4683900

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:192,956

Description:NC_000023.10:g.(?_85211158)_(85404112_?)dup AND not provided

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: 405 SVs from 50 studies. See in: genome view

Remapped(Score: Good):85,956,153-86,149,108

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683900	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	85,956,153	86,149,108
nsv4683900	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	85,211,158	85,404,112

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213190	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001031290.2, VCV000830673.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213190	Remapped	Good	NC_000023.11:g.(?_ 85956153)_(8614910 8_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	85,956,153	86,149,108
nssv16213190	Submitted genomic		NC_000023.10:g.(?_ 85211158)_(8540411 2_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	85,211,158	85,404,112

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
nssv16213190	GRCh37: NC_000023.10:g.(?_85211158)_(85404112_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001031290.2, VCV000830673.2

No genotype data were submitted for this variant

You are here: NCBI