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dbVar

Database of genomic structural variation

nsv3564547

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:Insertion of a SVA 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: 123 SVs from 26 studies. See in: genome view

Submitted genomic138,628,157-138,628,187

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3564547	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	138,628,172 (-15, +15)	138,628,172 (-15, +15)
nsv3564547	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	138,949,309 (-15, +15)	138,949,309 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14330324	sva insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14330325	sva insertion	SAMN00001695	Sequencing	Sequence alignment	Heterozygous	15,732
nssv14330326	sva insertion	SAMN00001696	Sequencing	Sequence alignment	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14330324	Submitted genomic		NC_000006.12:g.(13 8628157_138628187) _(138628157_138628 187)ins905	GRCh38 (hg38)		NC_000006.12	Chr6	138,628,172 (-15, +15)	138,628,172 (-15, +15)
nssv14330325	Submitted genomic		NC_000006.12:g.(13 8628157_138628187) _(138628157_138628 187)ins905	GRCh38 (hg38)		NC_000006.12	Chr6	138,628,172 (-15, +15)	138,628,172 (-15, +15)
nssv14330326	Submitted genomic		NC_000006.12:g.(13 8628157_138628187) _(138628157_138628 187)ins905	GRCh38 (hg38)		NC_000006.12	Chr6	138,628,172 (-15, +15)	138,628,172 (-15, +15)
nssv14330324	Remapped	Perfect	NC_000006.11:g.(13 8949294_138949324) _(138949294_138949 324)ins905	GRCh37.p13	First Pass	NC_000006.11	Chr6	138,949,309 (-15, +15)	138,949,309 (-15, +15)
nssv14330325	Remapped	Perfect	NC_000006.11:g.(13 8949294_138949324) _(138949294_138949 324)ins905	GRCh37.p13	First Pass	NC_000006.11	Chr6	138,949,309 (-15, +15)	138,949,309 (-15, +15)
nssv14330326	Remapped	Perfect	NC_000006.11:g.(13 8949294_138949324) _(138949294_138949 324)ins905	GRCh37.p13	First Pass	NC_000006.11	Chr6	138,949,309 (-15, +15)	138,949,309 (-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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