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

dbVar

Database of genomic structural variation

nsv3914320

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:118,028

Description:NCBI36/hg18 15q21.3(chr15:53509421-53571861)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: 544 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):55,401,988-55,520,015

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
nsv3914320	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	55,401,988	55,429,931	55,492,371	55,520,015
nsv3914320	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	55,694,186	55,722,129	55,784,569	55,812,213
nsv3914320	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	53,481,478	53,509,421	53,571,861	53,599,505

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125484	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450466.2, VCV000399438.2	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
nssv15125484	Remapped	Perfect	NC_000015.10:g.(55 401988_55429931)_( 55492371_55520015) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	55,401,988	55,429,931	55,492,371	55,520,015
nssv15125484	Remapped	Perfect	NC_000015.9:g.(556 94186_55722129)_(5 5784569_55812213)d el	GRCh37.p13	First Pass	NC_000015.9	Chr15	55,694,186	55,722,129	55,784,569	55,812,213
nssv15125484	Submitted genomic		NC_000015.8:g.(534 81478_53509421)_(5 3571861_53599505)d el	NCBI36 (hg18)		NC_000015.8	Chr15	53,481,478	53,509,421	53,571,861	53,599,505

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
nssv15125484	NCBI36: NC_000015.8:g.(53481478_53509421)_(53571861_53599505)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000450466.2, VCV000399438.2	1

No genotype data were submitted for this variant

You are here: NCBI