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dbVar

Database of genomic structural variation

nsv5003457

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,440

Publication(s):Abel et al. 2020

Links to Other Resources

Overlapping Genes

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: 636 SVs from 51 studies. See in: genome view

Submitted genomic30,019,138-30,020,580

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5003457	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	30,019,141 (-3, +23)	30,020,580 (-47)
nsv5003457	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	30,030,462 (-3, +23)	30,031,901 (-47)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16560373	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16560373	Submitted genomic		NC_000016.10:g.(30 019138_30019164)_( 30020533_?)del	GRCh38 (hg38)		NC_000016.10	Chr16	30,019,141 (-3, +23)	30,020,580 (-47)
nssv16560373	Remapped	Perfect	NC_000016.9:g.(300 30459_30030485)_(3 0031854_?)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	30,030,462 (-3, +23)	30,031,901 (-47)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16560373	<0.001	1	29246

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