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dbVar

Database of genomic structural variation

nsv3873508

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:8,131

Description:
See descriptions for individual calls in download files
Publication(s):Kasak et al. 2015, Mintz et al. 2021

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 384 SVs from 67 studies. See in: genome view

Submitted genomic69,541,905-69,550,035

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3873508	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000018.10	Chr18	69,541,905	69,550,035
nsv3873508	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000018.9	Chr18	67,209,141	67,217,271

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123184	deletion	Multiple	Multiple	Large for gestational age; Large for gestational age	not provided	ClinVar	RCV000161851.1, VCV000157423.1
nssv15123976	deletion	Multiple	Multiple	Normal pregnancy	not provided	ClinVar	RCV000161849.1, VCV000157423.1
nssv15123977	deletion	Multiple	Multiple	Small for gestational age; Small for gestational age	not provided	ClinVar	RCV000161850.1, VCV000157423.1
nssv15123978	deletion	Multiple	Multiple	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161852.1, VCV000157423.1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15123184	Submitted genomic	NC_000018.10:g.695 41905_69550035del	GRCh38 (hg38)	NC_000018.10	Chr18	69,541,905	69,550,035
nssv15123976	Submitted genomic	NC_000018.10:g.695 41905_69550035del	GRCh38 (hg38)	NC_000018.10	Chr18	69,541,905	69,550,035
nssv15123977	Submitted genomic	NC_000018.10:g.695 41905_69550035del	GRCh38 (hg38)	NC_000018.10	Chr18	69,541,905	69,550,035
nssv15123978	Submitted genomic	NC_000018.10:g.695 41905_69550035del	GRCh38 (hg38)	NC_000018.10	Chr18	69,541,905	69,550,035
nssv15123184	Submitted genomic	NC_000018.9:g.6720 9141_67217271del	GRCh37 (hg19)	NC_000018.9	Chr18	67,209,141	67,217,271
nssv15123976	Submitted genomic	NC_000018.9:g.6720 9141_67217271del	GRCh37 (hg19)	NC_000018.9	Chr18	67,209,141	67,217,271
nssv15123977	Submitted genomic	NC_000018.9:g.6720 9141_67217271del	GRCh37 (hg19)	NC_000018.9	Chr18	67,209,141	67,217,271
nssv15123978	Submitted genomic	NC_000018.9:g.6720 9141_67217271del	GRCh37 (hg19)	NC_000018.9	Chr18	67,209,141	67,217,271

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
nssv15123184	GRCh37: NC_000018.9:g.67209141_67217271del, GRCh38: NC_000018.10:g.69541905_69550035del	deletion	unknown	Large for gestational age; Large for gestational age	not provided	ClinVar	RCV000161851.1, VCV000157423.1
nssv15123976	GRCh37: NC_000018.9:g.67209141_67217271del, GRCh38: NC_000018.10:g.69541905_69550035del	deletion	unknown	Normal pregnancy	not provided	ClinVar	RCV000161849.1, VCV000157423.1
nssv15123977	GRCh37: NC_000018.9:g.67209141_67217271del, GRCh38: NC_000018.10:g.69541905_69550035del	deletion	unknown	Small for gestational age; Small for gestational age	not provided	ClinVar	RCV000161850.1, VCV000157423.1
nssv15123978	GRCh37: NC_000018.9:g.67209141_67217271del, GRCh38: NC_000018.10:g.69541905_69550035del	deletion	unknown	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161852.1, VCV000157423.1

No genotype data were submitted for this variant

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