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dbVar

Database of genomic structural variation

nsv3565902

Organism: Homo sapiens

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

Variant Calls:5
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: 445 SVs from 48 studies. See in: genome view

Submitted genomic7,035,312-7,035,342

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565902	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nsv3565902	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14344523	alu insertion	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14344524	alu insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14344525	alu insertion	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14344526	alu insertion	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185
nssv14344527	alu insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14344523	Submitted genomic		NC_000009.12:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh38 (hg38)		NC_000009.12	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344524	Submitted genomic		NC_000009.12:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh38 (hg38)		NC_000009.12	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344525	Submitted genomic		NC_000009.12:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh38 (hg38)		NC_000009.12	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344526	Submitted genomic		NC_000009.12:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh38 (hg38)		NC_000009.12	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344527	Submitted genomic		NC_000009.12:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh38 (hg38)		NC_000009.12	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344523	Remapped	Perfect	NC_000009.11:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh37.p13	First Pass	NC_000009.11	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344524	Remapped	Perfect	NC_000009.11:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh37.p13	First Pass	NC_000009.11	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344525	Remapped	Perfect	NC_000009.11:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh37.p13	First Pass	NC_000009.11	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344526	Remapped	Perfect	NC_000009.11:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh37.p13	First Pass	NC_000009.11	Chr9	7,035,327 (-15, +15)	7,035,327 (-15, +15)
nssv14344527	Remapped	Perfect	NC_000009.11:g.(70 35312_7035342)_(70 35312_7035342)ins2 80	GRCh37.p13	First Pass	NC_000009.11	Chr9	7,035,327 (-15, +15)	7,035,327 (-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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