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

dbVar

Database of genomic structural variation

nsv4681206

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,081,057

Description:
See descriptions for individual calls in download files
Publication(s):Gertler et al. 2018, Kleefstra et al. 2010, Kurahashi et al. 2002

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: 10295 SVs from 115 studies. See in: genome view

Remapped(Score: Good):135,753,917-137,834,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681206	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	135,753,917	137,834,973
nsv4681206	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	138,645,763	140,729,425

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214709	deletion	Multiple	Multiple	KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1	Pathogenic	ClinVar	RCV001031921.6, VCV000831360.33
nssv17059560	deletion	Multiple	Multiple	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy; EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001362982.9, VCV000831360.33

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214709	Remapped	Good	NC_000009.12:g.(?_ 135753917)_(137834 973_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	135,753,917	137,834,973
nssv17059560	Remapped	Good	NC_000009.12:g.(?_ 135753917)_(137834 973_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	135,753,917	137,834,973
nssv16214709	Submitted genomic		NC_000009.11:g.(?_ 138645763)_(140729 425_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	138,645,763	140,729,425
nssv17059560	Submitted genomic		NC_000009.11:g.(?_ 138645763)_(140729 425_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	138,645,763	140,729,425

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214709	GRCh37: NC_000009.11:g.(?_138645763)_(140729425_?)del	deletion	germline	KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1	Pathogenic	ClinVar	RCV001031921.6, VCV000831360.33
nssv17059560	GRCh37: NC_000009.11:g.(?_138645763)_(140729425_?)del	deletion	germline	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy; EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001362982.9, VCV000831360.33

No genotype data were submitted for this variant

You are here: NCBI