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dbVar

Database of genomic structural variation

nsv3565945

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:Insertion of a Alu mobile element relative to the reference
Publication(s):Chaisson et al. 2019

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: 440 SVs from 32 studies. See in: genome view

Submitted genomic128,629,555-128,629,585

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565945	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	128,629,570 (-15, +15)	128,629,570 (-15, +15)
nsv3565945	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	127,763,548 (-15, +15)	127,763,548 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14353540	alu insertion	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14353541	alu insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14353540	Submitted genomic		NC_000023.11:g.(12 8629555_128629585) _(128629555_128629 585)ins102	GRCh38 (hg38)		NC_000023.11	ChrX	128,629,570 (-15, +15)	128,629,570 (-15, +15)
nssv14353541	Submitted genomic		NC_000023.11:g.(12 8629555_128629585) _(128629555_128629 585)ins102	GRCh38 (hg38)		NC_000023.11	ChrX	128,629,570 (-15, +15)	128,629,570 (-15, +15)
nssv14353540	Remapped	Perfect	NC_000023.10:g.(12 7763533_127763563) _(127763533_127763 563)ins102	GRCh37.p13	First Pass	NC_000023.10	ChrX	127,763,548 (-15, +15)	127,763,548 (-15, +15)
nssv14353541	Remapped	Perfect	NC_000023.10:g.(12 7763533_127763563) _(127763533_127763 563)ins102	GRCh37.p13	First Pass	NC_000023.10	ChrX	127,763,548 (-15, +15)	127,763,548 (-15, +15)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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