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dbVar

Database of genomic structural variation

nsv3924589

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:1,793,994

Description:NCBI36/hg18 16p11.2(chr16:28311678-30098094)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: 5639 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):28,392,093-30,186,086

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
nsv3924589	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	28,392,093	28,392,856	30,179,272	30,186,086
nsv3924589	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	28,403,414	28,404,177	30,190,593	30,197,407
nsv3924589	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	28,310,915	28,311,678	30,098,094	30,104,908

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126409	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450931.2, VCV000400068.2	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
nssv15126409	Remapped	Perfect	NC_000016.10:g.(28 392093_28392856)_( 30179272_30186086) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	28,392,093	28,392,856	30,179,272	30,186,086
nssv15126409	Remapped	Perfect	NC_000016.9:g.(284 03414_28404177)_(3 0190593_30197407)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	28,403,414	28,404,177	30,190,593	30,197,407
nssv15126409	Submitted genomic		NC_000016.8:g.(283 10915_28311678)_(3 0098094_30104908)d el	NCBI36 (hg18)		NC_000016.8	Chr16	28,310,915	28,311,678	30,098,094	30,104,908

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
nssv15126409	NCBI36: NC_000016.8:g.(28310915_28311678)_(30098094_30104908)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000450931.2, VCV000400068.2	1

No genotype data were submitted for this variant

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