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dbVar

Database of genomic structural variation

nsv5939564

Organism: Homo sapiens

Study:nstd209 (Almarri 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:8,562

Publication(s):Almarri 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: 120 SVs from 35 studies. See in: genome view

Submitted genomic73,487,523-73,496,084

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5939564	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	73,487,523	73,496,084
nsv5939564	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	73,954,228	73,962,788

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17387727	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17387727	Submitted genomic		NC_000014.9:g.7348 7523_73496084dup	GRCh38 (hg38)		NC_000014.9	Chr14	73,487,523	73,496,084
nssv17387727	Remapped	Good	NC_000014.8:g.7395 4228_73962788dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	73,954,228	73,962,788

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17387727	0.001	1	1794

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