nsv3412952

Organism: Homo sapiens

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

Variant Calls:10
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: 114 SVs from 29 studies. See in: genome view

Submitted genomic83,460,627-83,460,627

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3412952	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	83,460,627	83,460,627
nsv3412952	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14732658	herv insertion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14732686	herv insertion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14734576	herv insertion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14738289	herv insertion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14740128	herv insertion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14742437	herv insertion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14744099	herv insertion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14746394	herv insertion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14747314	herv insertion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14747523	herv insertion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14732658	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14732686	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14734576	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14738289	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14740128	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14742437	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14744099	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14746394	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14747314	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14747523	Submitted genomic		NC_000007.14:g.834 60627_83460628ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,627	83,460,627
nssv14732658	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14732686	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14734576	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14738289	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14740128	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14742437	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14744099	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14746394	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14747314	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943
nssv14747523	Remapped	Perfect	NC_000007.13:g.830 89943_83089944ins6 4NC_000007.13:g.83 089943_83089944ins 64	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,943	83,089,943

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dbVar

Database of genomic structural variation

nsv3412952

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Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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