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dbVar

Database of genomic structural variation

nsv917778

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:547,049

Publication(s):Wapner et al. 2012

Links to Other Resources

Overlapping Genes

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: 1385 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):189,162,501-189,709,549

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917778	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	189,162,501	189,709,549
nsv917778	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	188,880,290	189,427,338
nsv917778	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	190,362,984	190,910,032

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1607517	copy number loss	ISCA_ID_pn_881	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1607517	Remapped	Perfect	NC_000003.12:g.(?_ 189162501)_(189709 549_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	189,162,501	189,709,549
nssv1607517	Remapped	Perfect	NC_000003.11:g.(?_ 188880290)_(189427 338_?)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	188,880,290	189,427,338
nssv1607517	Submitted genomic		NC_000003.10:g.(?_ 190362984)_(190910 032_?)del	NCBI36 (hg18)		NC_000003.10	Chr3	190,362,984	190,910,032

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv1607517	2	ISCA_ID_pn_881	FISH	Manual observation	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1607517	ISCA_ID_pn_881	NCBI36: NC_000003.10:g.(?_190362984)_(190910032_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	Male	17 weeks gestation	1

No genotype data were submitted for this variant

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