Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4714415

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:7

Publication(s):Mwapagha et al. 2021

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: 116 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):54,443,411-54,443,412

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4714415	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000019.10	Chr19	54,443,411	54,443,412
nsv4714415	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	425,707	425,708
nsv4714415	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	348,101	348,102
nsv4714415	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	349,927	349,933
nsv4714415	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,954,593	54,954,594

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16240566	inversion	M478	Sequencing	Paired-end mapping	1	4,557
nssv16243829	inversion	B381	Sequencing	Paired-end mapping	1	5,743

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16240566	Remapped	Perfect	NT_187693.1:g.4257 07_425708inv	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	425,707	425,708
nssv16243829	Remapped	Perfect	NT_187693.1:g.4257 07_425708inv	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	425,707	425,708
nssv16240566	Remapped	Perfect	NW_003571060.1:g.3 48101_348102inv	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	348,101	348,102
nssv16243829	Remapped	Perfect	NW_003571060.1:g.3 48101_348102inv	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	348,101	348,102
nssv16240566	Remapped	Pass	NW_003571054.1:g.3 49927_349933inv	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	349,927	349,933
nssv16243829	Remapped	Pass	NW_003571054.1:g.3 49927_349933inv	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	349,927	349,933
nssv16240566	Remapped	Perfect	NC_000019.10:g.544 43411_54443412inv	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,443,411	54,443,412
nssv16243829	Remapped	Perfect	NC_000019.10:g.544 43411_54443412inv	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,443,411	54,443,412
nssv16240566	Submitted genomic		NC_000019.9:g.5495 4593_54954594inv	GRCh37 (hg19)		NC_000019.9	Chr19	54,954,593	54,954,594
nssv16243829	Submitted genomic		NC_000019.9:g.5495 4593_54954594inv	GRCh37 (hg19)		NC_000019.9	Chr19	54,954,593	54,954,594

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.

You are here: NCBI