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dbVar

Database of genomic structural variation

nsv4684263

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,117

Description:
See descriptions for individual calls in download files

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: 69 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):161,288,681-161,290,797

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4684263	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	161,288,681	161,290,797
nsv4684263	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	160,715,688	160,717,804

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16215176	copy number gain	Multiple	Multiple	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	risk factor	ClinVar	RCV001171490.1, VCV000916007.1
nssv16215177	copy number loss	Multiple	Multiple	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	Benign	ClinVar	RCV001171491.1, VCV000916008.1
nssv16215178	copy number gain	Multiple	Multiple	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	risk factor	ClinVar	RCV001171492.1, VCV000916009.1
nssv16215179	copy number loss	Multiple	Multiple	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	Benign	ClinVar	RCV001171493.1, VCV000916010.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16215176	Remapped	Perfect	NC_000005.10:g.161 288681_161290797du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,288,681	161,290,797
nssv16215177	Remapped	Perfect	NC_000005.10:g.161 288681_161290797de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,288,681	161,290,797
nssv16215178	Remapped	Perfect	NC_000005.10:g.161 288681_161290797du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,288,681	161,290,797
nssv16215179	Remapped	Perfect	NC_000005.10:g.161 288681_161290797de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,288,681	161,290,797
nssv16215176	Submitted genomic		NC_000005.9:g.1607 15688_160717804dup	GRCh37 (hg19)		NC_000005.9	Chr5	160,715,688	160,717,804
nssv16215177	Submitted genomic		NC_000005.9:g.1607 15688_160717804del	GRCh37 (hg19)		NC_000005.9	Chr5	160,715,688	160,717,804
nssv16215178	Submitted genomic		NC_000005.9:g.1607 15688_160717804dup	GRCh37 (hg19)		NC_000005.9	Chr5	160,715,688	160,717,804
nssv16215179	Submitted genomic		NC_000005.9:g.1607 15688_160717804del	GRCh37 (hg19)		NC_000005.9	Chr5	160,715,688	160,717,804

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
nssv16215176	GRCh37: NC_000005.9:g.160715688_160717804dup	copy number gain	see ClinVar for details	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	risk factor	ClinVar	RCV001171490.1, VCV000916007.1
nssv16215177	GRCh37: NC_000005.9:g.160715688_160717804del	copy number loss	see ClinVar for details	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	Benign	ClinVar	RCV001171491.1, VCV000916008.1
nssv16215178	GRCh37: NC_000005.9:g.160715688_160717804dup	copy number gain	see ClinVar for details	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	risk factor	ClinVar	RCV001171492.1, VCV000916009.1
nssv16215179	GRCh37: NC_000005.9:g.160715688_160717804del	copy number loss	see ClinVar for details	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	Benign	ClinVar	RCV001171493.1, VCV000916010.1

No genotype data were submitted for this variant

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