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dbVar

Database of genomic structural variation

nsv3913103

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:1,995,918

Description:NCBI36/hg18 15q22.31-23(chr15:64413397-66338616)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: 5441 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):66,301,753-68,297,670

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
nsv3913103	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	66,301,753	66,334,005	68,259,224	68,297,670
nsv3913103	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	66,594,091	66,626,343	68,551,562	68,590,008
nsv3913103	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	64,381,145	64,413,397	66,338,616	66,377,062

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128535	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000454120.2, VCV000400239.2	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
nssv15128535	Remapped	Perfect	NC_000015.10:g.(66 301753_66334005)_( 68259224_68297670) dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	66,301,753	66,334,005	68,259,224	68,297,670
nssv15128535	Remapped	Perfect	NC_000015.9:g.(665 94091_66626343)_(6 8551562_68590008)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	66,594,091	66,626,343	68,551,562	68,590,008
nssv15128535	Submitted genomic		NC_000015.8:g.(643 81145_64413397)_(6 6338616_66377062)d up	NCBI36 (hg18)		NC_000015.8	Chr15	64,381,145	64,413,397	66,338,616	66,377,062

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
nssv15128535	NCBI36: NC_000015.8:g.(64381145_64413397)_(66338616_66377062)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000454120.2, VCV000400239.2	3

No genotype data were submitted for this variant

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