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dbVar

Database of genomic structural variation

nsv997148

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:
Submitted on:GRCh37 (hg19)

Variant Calls:0
Validation:Not tested
Clinical Assertions: No
Region Size:6,356

Description:RAB39B;This region was evaluated in the context of an affected MALE. Please review disease-specific literature for information regarding phenotype of this disorder in FEMALES.
Publication(s):Barbe et al. 2008, Cheng et al. 2002, Gerhard et al. 2004, Giannandrea et al. 2010, Hartley et al. 2000, Mehrle et al. 2006, Ota et al. 2004, Piton et al. 2013, Riggs et al. 2011, Ross et al. 2005, Simpson et al. 2000, Strausberg et al. 2002, Vissers et al. 2010, Wiemann et al. 2001, Wiemann et al. 2004

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: 269 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):155,258,234-155,264,589

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv997148	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	155,258,234	155,264,589
nsv997148	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	154,487,519	154,493,874

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv3442656	copy number loss	Curated	Curated	RAS-ASSOCIATED PROTEIN RAB39B; RAB39B	Pathogenic	ClinGen Dosage Sensitivity Map	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv3442656	Remapped	Perfect	NC_000023.11:g.(?_ 155258234)_(155264 589_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,258,234	155,264,589
nssv3442656	Submitted genomic		NC_000023.10:g.(?_ 154487519)_(154493 874_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	154,487,519	154,493,874

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv3442656	GRCh37: NC_000023.10:g.(?_154487519)_(154493874_?)del	copy number loss	RAS-ASSOCIATED PROTEIN RAB39B; RAB39B	Pathogenic	ClinGen Dosage Sensitivity Map	0

No genotype data were submitted for this variant

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