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dbVar

Database of genomic structural variation

nsv6314621

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

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

Description:
46;XX;inv(5)(p12q13.1)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 93 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):24,272,189-24,272,189

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	24,272,189	24,272,189	-
nsv6314621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	24,272,193	24,272,193	+
nsv6314621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,105,026	89,105,026	-
nsv6314621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,105,031	89,105,031	+
nsv6314621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	24,272,298	24,272,298	-
nsv6314621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	24,272,302	24,272,302	+
nsv6314621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,400,843	88,400,843	-
nsv6314621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,400,848	88,400,848	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975739	inversion	Multiple	Multiple	Autistic behavior; Autistic behavior; Global developmental delay; Global developmental delay; Hypotonia; Muscular hypotonia; Seizure; Seizures	Likely pathogenic	ClinVar	RCV000258677.1, VCV000267886.1
nssv17975738	inversion	Multiple	Multiple	Autistic behavior; Autistic behavior; Global developmental delay; Global developmental delay; Hypotonia; Muscular hypotonia; Seizure; Seizures	Likely pathogenic	ClinVar	RCV000258677.1, VCV000267886.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17975739	Remapped	Perfect	NC_000005.10:g.891 05031inv230NC_0000 05.10:g.24272189in v230	GRCh38.p12	First Pass	NC_000005.10	Chr5	24,272,189	24,272,189
nssv17975738	Remapped	Perfect	NC_000005.10:g.891 05026inv227NC_0000 05.10:g.24272193in v227	GRCh38.p12	First Pass	NC_000005.10	Chr5	24,272,193	24,272,193
nssv17975738	Remapped	Perfect	NC_000005.10:g.891 05026inv227NC_0000 05.10:g.24272193in v227	GRCh38.p12	First Pass	NC_000005.10	Chr5	89,105,026	89,105,026
nssv17975739	Remapped	Perfect	NC_000005.10:g.891 05031inv230NC_0000 05.10:g.24272189in v230	GRCh38.p12	First Pass	NC_000005.10	Chr5	89,105,031	89,105,031
nssv17975739	Submitted genomic		NC_000005.9:g.2427 2298inv230NC_00000 5.9:g.88400848inv2 30	GRCh37 (hg19)		NC_000005.9	Chr5	24,272,298	24,272,298
nssv17975738	Submitted genomic		NC_000005.9:g.2427 2302inv227NC_00000 5.9:g.88400843inv2 27	GRCh37 (hg19)		NC_000005.9	Chr5	24,272,302	24,272,302
nssv17975738	Submitted genomic		NC_000005.9:g.2427 2302inv227NC_00000 5.9:g.88400843inv2 27	GRCh37 (hg19)		NC_000005.9	Chr5	88,400,843	88,400,843
nssv17975739	Submitted genomic		NC_000005.9:g.2427 2298inv230NC_00000 5.9:g.88400848inv2 30	GRCh37 (hg19)		NC_000005.9	Chr5	88,400,848	88,400,848

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975739	GRCh37: NC_000005.9:g.24272298inv230NC_000005.9:g.88400848inv230	inversion	de novo	Autistic behavior; Autistic behavior; Global developmental delay; Global developmental delay; Hypotonia; Muscular hypotonia; Seizure; Seizures	Likely pathogenic	ClinVar	RCV000258677.1, VCV000267886.1
nssv17975738	GRCh37: NC_000005.9:g.24272302inv227NC_000005.9:g.88400843inv227	inversion	de novo	Autistic behavior; Autistic behavior; Global developmental delay; Global developmental delay; Hypotonia; Muscular hypotonia; Seizure; Seizures	Likely pathogenic	ClinVar	RCV000258677.1, VCV000267886.1

No genotype data were submitted for this variant

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