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dbVar

Database of genomic structural variation

nsv2781925

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Publication(s):Redin et al. 2016

Links to Other Resources

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: 413 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):102,009,739-102,009,739

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	102,009,739	102,009,739	-
nsv2781925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	102,009,740	102,009,740	+
nsv2781925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	142,348,667	142,348,667	-
nsv2781925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	142,567,521	142,567,521	+
nsv2781925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	101,264,712	101,264,712	-
nsv2781925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	101,264,713	101,264,713	+
nsv2781925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	141,436,453	141,436,453	-
nsv2781925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	141,655,307	141,655,307	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660337	inversion	ROC21	Sequencing	Split read and paired-end mapping	SCV000320921	nssv13660336
nssv13660336	inversion	ROC21	Sequencing	Split read and paired-end mapping	SCV000320921	nssv13660337

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660337	Remapped	Perfect	NC_000023.11:g.102 009739inv389NC_000 023.11:g.142567521 inv389	GRCh38.p12	First Pass	NC_000023.11	ChrX	102,009,739	102,009,739
nssv13660336	Remapped	Perfect	NC_000023.11:g.102 009740inv318NC_000 023.11:g.142348667 inv318	GRCh38.p12	First Pass	NC_000023.11	ChrX	102,009,740	102,009,740
nssv13660336	Remapped	Perfect	NC_000023.11:g.102 009740inv318NC_000 023.11:g.142348667 inv318	GRCh38.p12	First Pass	NC_000023.11	ChrX	142,348,667	142,348,667
nssv13660337	Remapped	Perfect	NC_000023.11:g.102 009739inv389NC_000 023.11:g.142567521 inv389	GRCh38.p12	First Pass	NC_000023.11	ChrX	142,567,521	142,567,521
nssv13660337	Submitted genomic		[NC_000023.10:g.10 1264712inv389];[NC _000023.10:g.14165 5307inv389]	GRCh37 (hg19)		NC_000023.10	ChrX	101,264,712	101,264,712
nssv13660336	Submitted genomic		[NC_000023.10:g.10 1264713inv318];[NC _000023.10:g.14143 6453inv318]	GRCh37 (hg19)		NC_000023.10	ChrX	101,264,713	101,264,713
nssv13660336	Submitted genomic		[NC_000023.10:g.10 1264713inv318];[NC _000023.10:g.14143 6453inv318]	GRCh37 (hg19)		NC_000023.10	ChrX	141,436,453	141,436,453
nssv13660337	Submitted genomic		[NC_000023.10:g.10 1264712inv389];[NC _000023.10:g.14165 5307inv389]	GRCh37 (hg19)		NC_000023.10	ChrX	141,655,307	141,655,307

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660337	ROC21	GRCh37: [NC_000023.10:g.101264712inv389];[NC_000023.10:g.141655307inv389]	inversion		SCV000320921	Female	nssv13660336
nssv13660336	ROC21	GRCh37: [NC_000023.10:g.101264713inv318];[NC_000023.10:g.141436453inv318]	inversion		SCV000320921	Female	nssv13660337

No genotype data were submitted for this variant

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