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dbVar

Database of genomic structural variation

nsv3366344

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):Audano 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: 131 SVs from 30 studies. See in: genome view

Submitted genomic77,089,240-77,089,240

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3366344	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	77,089,240	77,089,240
nsv3366344	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14613315	herv insertion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14619754	herv insertion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14621171	herv insertion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14621358	herv insertion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14628853	herv insertion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14630437	herv insertion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14613315	Submitted genomic		NC_000002.12:g.770 89240_77089241ins6 1	GRCh38 (hg38)		NC_000002.12	Chr2	77,089,240	77,089,240
nssv14619754	Submitted genomic		NC_000002.12:g.770 89240_77089241ins6 1	GRCh38 (hg38)		NC_000002.12	Chr2	77,089,240	77,089,240
nssv14621171	Submitted genomic		NC_000002.12:g.770 89240_77089241ins6 1	GRCh38 (hg38)		NC_000002.12	Chr2	77,089,240	77,089,240
nssv14621358	Submitted genomic		NC_000002.12:g.770 89240_77089241ins6 1	GRCh38 (hg38)		NC_000002.12	Chr2	77,089,240	77,089,240
nssv14628853	Submitted genomic		NC_000002.12:g.770 89240_77089241ins6 1	GRCh38 (hg38)		NC_000002.12	Chr2	77,089,240	77,089,240
nssv14630437	Submitted genomic		NC_000002.12:g.770 89240_77089241ins6 1	GRCh38 (hg38)		NC_000002.12	Chr2	77,089,240	77,089,240
nssv14613315	Remapped	Perfect	NC_000002.11:g.773 16366_77316367ins6 1NC_000002.11:g.77 316366_77316367ins 61	GRCh37.p13	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366
nssv14619754	Remapped	Perfect	NC_000002.11:g.773 16366_77316367ins6 1NC_000002.11:g.77 316366_77316367ins 61	GRCh37.p13	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366
nssv14621171	Remapped	Perfect	NC_000002.11:g.773 16366_77316367ins6 1NC_000002.11:g.77 316366_77316367ins 61	GRCh37.p13	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366
nssv14621358	Remapped	Perfect	NC_000002.11:g.773 16366_77316367ins6 1NC_000002.11:g.77 316366_77316367ins 61	GRCh37.p13	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366
nssv14628853	Remapped	Perfect	NC_000002.11:g.773 16366_77316367ins6 1NC_000002.11:g.77 316366_77316367ins 61	GRCh37.p13	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366
nssv14630437	Remapped	Perfect	NC_000002.11:g.773 16366_77316367ins6 1NC_000002.11:g.77 316366_77316367ins 61	GRCh37.p13	First Pass	NC_000002.11	Chr2	77,316,366	77,316,366

Showing 12 of 18

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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