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dbVar

Database of genomic structural variation

nsv918059

Organism: Homo sapiens

Study:nstd75 (ClinGen Prenatal)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Yes
Clinical Assertions: Yes
Region Size:80,155,633

Publication(s):Wapner et al. 2012

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: 182805 SVs from 133 studies. See in: genome view

Remapped(Score: Pass):101,542-80,257,174

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv918059	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	101,542	80,257,174
nsv918059	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	101,542	78,015,057
nsv918059	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	91,542	76,116,029

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605638	copy number gain	ISCA_ID_pn_137	Oligo aCGH	Probe signal intensity	Intrauterine growth retardation	Pathogenic	Submitter	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1605638	Remapped	Pass	NC_000018.10:g.(?_ 101542)_(80257174_ ?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	101,542	80,257,174
nssv1605638	Remapped	Good	NC_000018.9:g.(?_1 01542)_(78015057_? )dup	GRCh37.p13	First Pass	NC_000018.9	Chr18	101,542	78,015,057
nssv1605638	Submitted genomic		NC_000018.8:g.(?_9 1542)_(76116029_?) dup	NCBI36 (hg18)		NC_000018.8	Chr18	91,542	76,116,029

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv1605638	3	ISCA_ID_pn_137	Karyotyping	Manual observation	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1605638	ISCA_ID_pn_137	NCBI36: NC_000018.8:g.(?_91542)_(76116029_?)dup	copy number gain	Intrauterine growth retardation	Pathogenic	Submitter	Female	26 weeks gestation	3

No genotype data were submitted for this variant

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