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dbVar

Database of genomic structural variation

nsv3875615

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:60,094

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: 803 SVs from 76 studies. See in: genome view

Submitted genomic97,712,762-97,772,855

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3875615	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000005.10	Chr5	97,712,762	97,772,855
nsv3875615	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000005.9	Chr5	97,048,466	97,108,559

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15122854	deletion	Multiple	Multiple	Small for gestational age; Small for gestational age	not provided	ClinVar	RCV000161407.1, VCV000156980.1
nssv15122855	deletion	Multiple	Multiple	Gestational diabetes mellitus uncontrolled	not provided	ClinVar	RCV000161410.1, VCV000156980.1
nssv15123799	deletion	Multiple	Multiple	Normal pregnancy	not provided	ClinVar	RCV000161406.1, VCV000156980.1
nssv15123800	deletion	Multiple	Multiple	Large for gestational age; Large for gestational age	not provided	ClinVar	RCV000161409.1, VCV000156980.1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15122854	Submitted genomic	NC_000005.10:g.977 12762_97772855del	GRCh38 (hg38)	NC_000005.10	Chr5	97,712,762	97,772,855
nssv15122855	Submitted genomic	NC_000005.10:g.977 12762_97772855del	GRCh38 (hg38)	NC_000005.10	Chr5	97,712,762	97,772,855
nssv15123799	Submitted genomic	NC_000005.10:g.977 12762_97772855del	GRCh38 (hg38)	NC_000005.10	Chr5	97,712,762	97,772,855
nssv15123800	Submitted genomic	NC_000005.10:g.977 12762_97772855del	GRCh38 (hg38)	NC_000005.10	Chr5	97,712,762	97,772,855
nssv15122854	Submitted genomic	NC_000005.9:g.9704 8466_97108559del	GRCh37 (hg19)	NC_000005.9	Chr5	97,048,466	97,108,559
nssv15122855	Submitted genomic	NC_000005.9:g.9704 8466_97108559del	GRCh37 (hg19)	NC_000005.9	Chr5	97,048,466	97,108,559
nssv15123799	Submitted genomic	NC_000005.9:g.9704 8466_97108559del	GRCh37 (hg19)	NC_000005.9	Chr5	97,048,466	97,108,559
nssv15123800	Submitted genomic	NC_000005.9:g.9704 8466_97108559del	GRCh37 (hg19)	NC_000005.9	Chr5	97,048,466	97,108,559

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
nssv15122854	GRCh37: NC_000005.9:g.97048466_97108559del, GRCh38: NC_000005.10:g.97712762_97772855del	deletion	unknown	Small for gestational age; Small for gestational age	not provided	ClinVar	RCV000161407.1, VCV000156980.1
nssv15122855	GRCh37: NC_000005.9:g.97048466_97108559del, GRCh38: NC_000005.10:g.97712762_97772855del	deletion	unknown	Gestational diabetes mellitus uncontrolled	not provided	ClinVar	RCV000161410.1, VCV000156980.1
nssv15123799	GRCh37: NC_000005.9:g.97048466_97108559del, GRCh38: NC_000005.10:g.97712762_97772855del	deletion	unknown	Normal pregnancy	not provided	ClinVar	RCV000161406.1, VCV000156980.1
nssv15123800	GRCh37: NC_000005.9:g.97048466_97108559del, GRCh38: NC_000005.10:g.97712762_97772855del	deletion	unknown	Large for gestational age; Large for gestational age	not provided	ClinVar	RCV000161409.1, VCV000156980.1

No genotype data were submitted for this variant

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