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dbVar

Database of genomic structural variation

nsv6290273

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:15,192,531

Description:GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 AND multiple conditions

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: 35597 SVs from 125 studies. See in: genome view

Remapped(Score: Good):143,010,765-158,203,295

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290273	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	143,010,765	158,203,295
nsv6290273	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	142,729,607	157,921,084

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955811	copy number gain	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Brachycephaly; Brachycephaly; Microcephaly; Microcephaly	Pathogenic	ClinVar	RCV001801182.1, VCV001330165.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17955811	Remapped	Good	NC_000003.12:g.(?_ 143010765)_(158203 295_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	143,010,765	158,203,295
nssv17955811	Submitted genomic		NC_000003.11:g.(?_ 142729607)_(157921 084_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	142,729,607	157,921,084

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	Copy number
nssv17955811	GRCh37: NC_000003.11:g.(?_142729607)_(157921084_?)dup	copy number gain	maternal	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Brachycephaly; Brachycephaly; Microcephaly; Microcephaly	Pathogenic	ClinVar	RCV001801182.1, VCV001330165.1	3

No genotype data were submitted for this variant

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