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dbVar

Database of genomic structural variation

nsv917970

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:107,396

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: 430 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):146,754,254-146,861,649

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917970	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	146,754,254	146,861,649
nsv917970	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	146,451,346	146,558,741
nsv917970	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	146,082,279	146,189,674

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605445	copy number loss	ISCA_ID_pn_1189	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
nssv1605445	Remapped	Perfect	NC_000007.14:g.(?_ 146754254)_(146861 649_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	146,754,254	146,861,649
nssv1605445	Remapped	Perfect	NC_000007.13:g.(?_ 146451346)_(146558 741_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	146,451,346	146,558,741
nssv1605445	Submitted genomic		NC_000007.12:g.(?_ 146082279)_(146189 674_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	146,082,279	146,189,674

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv1605445	2	ISCA_ID_pn_1189	FISH	Manual observation	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1605445	ISCA_ID_pn_1189	NCBI36: NC_000007.12:g.(?_146082279)_(146189674_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	Male	16 weeks gestation	1

No genotype data were submitted for this variant

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