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dbVar

Database of genomic structural variation

nsv3875762

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:20,960

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

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: 565 SVs from 79 studies. See in: genome view

Submitted genomic68,672,890-68,693,849

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3875762	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000013.11	Chr13	68,672,890	68,693,849
nsv3875762	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000013.10	Chr13	69,247,022	69,267,981

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123166	deletion	Multiple	Multiple	Gestational diabetes mellitus uncontrolled	not provided	ClinVar	RCV000161707.1, VCV000157277.1
nssv15123609	deletion	Multiple	Multiple	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161706.1, VCV000157277.1
nssv15123909	deletion	Multiple	Multiple	Normal pregnancy	not provided	ClinVar	RCV000161703.1, VCV000157277.1
nssv15123910	deletion	Multiple	Multiple	Small for gestational age; Small for gestational age	not provided	ClinVar	RCV000161704.1, VCV000157277.1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15123166	Submitted genomic	NC_000013.11:g.686 72890_68693849del	GRCh38 (hg38)	NC_000013.11	Chr13	68,672,890	68,693,849
nssv15123609	Submitted genomic	NC_000013.11:g.686 72890_68693849del	GRCh38 (hg38)	NC_000013.11	Chr13	68,672,890	68,693,849
nssv15123909	Submitted genomic	NC_000013.11:g.686 72890_68693849del	GRCh38 (hg38)	NC_000013.11	Chr13	68,672,890	68,693,849
nssv15123910	Submitted genomic	NC_000013.11:g.686 72890_68693849del	GRCh38 (hg38)	NC_000013.11	Chr13	68,672,890	68,693,849
nssv15123166	Submitted genomic	NC_000013.10:g.692 47022_69267981del	GRCh37 (hg19)	NC_000013.10	Chr13	69,247,022	69,267,981
nssv15123609	Submitted genomic	NC_000013.10:g.692 47022_69267981del	GRCh37 (hg19)	NC_000013.10	Chr13	69,247,022	69,267,981
nssv15123909	Submitted genomic	NC_000013.10:g.692 47022_69267981del	GRCh37 (hg19)	NC_000013.10	Chr13	69,247,022	69,267,981
nssv15123910	Submitted genomic	NC_000013.10:g.692 47022_69267981del	GRCh37 (hg19)	NC_000013.10	Chr13	69,247,022	69,267,981

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
nssv15123166	GRCh37: NC_000013.10:g.69247022_69267981del, GRCh38: NC_000013.11:g.68672890_68693849del	deletion	unknown	Gestational diabetes mellitus uncontrolled	not provided	ClinVar	RCV000161707.1, VCV000157277.1
nssv15123609	GRCh37: NC_000013.10:g.69247022_69267981del, GRCh38: NC_000013.11:g.68672890_68693849del	deletion	unknown	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161706.1, VCV000157277.1
nssv15123909	GRCh37: NC_000013.10:g.69247022_69267981del, GRCh38: NC_000013.11:g.68672890_68693849del	deletion	unknown	Normal pregnancy	not provided	ClinVar	RCV000161703.1, VCV000157277.1
nssv15123910	GRCh37: NC_000013.10:g.69247022_69267981del, GRCh38: NC_000013.11:g.68672890_68693849del	deletion	unknown	Small for gestational age; Small for gestational age	not provided	ClinVar	RCV000161704.1, VCV000157277.1

No genotype data were submitted for this variant

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