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dbVar

Database of genomic structural variation

nsv4684268

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:318

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: 47 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):161,369,697-161,370,014

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4684268	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	161,369,697	161,370,014
nsv4684268	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	160,796,703	160,797,020

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16215141	copy number gain	Multiple	Multiple	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	risk factor	ClinVar	RCV001171494.1, VCV000916011.1
nssv16215142	copy number loss	Multiple	Multiple	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	Benign	ClinVar	RCV001171495.1, VCV000916012.1
nssv16215143	copy number gain	Multiple	Multiple	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	risk factor	ClinVar	RCV001171496.1, VCV000916013.1
nssv16215144	copy number loss	Multiple	Multiple	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	Benign	ClinVar	RCV001171497.1, VCV000916014.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16215141	Remapped	Perfect	NC_000005.10:g.161 369697_161370014du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,369,697	161,370,014
nssv16215142	Remapped	Perfect	NC_000005.10:g.161 369697_161370014de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,369,697	161,370,014
nssv16215143	Remapped	Perfect	NC_000005.10:g.161 369697_161370014du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,369,697	161,370,014
nssv16215144	Remapped	Perfect	NC_000005.10:g.161 369697_161370014de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,369,697	161,370,014
nssv16215141	Submitted genomic		NC_000005.9:g.1607 96703_160797020dup	GRCh37 (hg19)		NC_000005.9	Chr5	160,796,703	160,797,020
nssv16215142	Submitted genomic		NC_000005.9:g.1607 96703_160797020del	GRCh37 (hg19)		NC_000005.9	Chr5	160,796,703	160,797,020
nssv16215143	Submitted genomic		NC_000005.9:g.1607 96703_160797020dup	GRCh37 (hg19)		NC_000005.9	Chr5	160,796,703	160,797,020
nssv16215144	Submitted genomic		NC_000005.9:g.1607 96703_160797020del	GRCh37 (hg19)		NC_000005.9	Chr5	160,796,703	160,797,020

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
nssv16215141	GRCh37: NC_000005.9:g.160796703_160797020dup	copy number gain	see ClinVar for details	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	risk factor	ClinVar	RCV001171494.1, VCV000916011.1
nssv16215142	GRCh37: NC_000005.9:g.160796703_160797020del	copy number loss	see ClinVar for details	Premenstrual Dysphoric Disorder; Premenstrual dysphoric disorder	Benign	ClinVar	RCV001171495.1, VCV000916012.1
nssv16215143	GRCh37: NC_000005.9:g.160796703_160797020dup	copy number gain	see ClinVar for details	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	risk factor	ClinVar	RCV001171496.1, VCV000916013.1
nssv16215144	GRCh37: NC_000005.9:g.160796703_160797020del	copy number loss	see ClinVar for details	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	Benign	ClinVar	RCV001171497.1, VCV000916014.1

No genotype data were submitted for this variant

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