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dbVar

Database of genomic structural variation

nsv917695

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,246,405

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: 3092 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):55,756,766-57,003,170

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917695	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,756,766	57,003,170
nsv917695	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	57,516,526	58,762,930
nsv917695	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	57,186,532	58,432,936

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1607339	copy number loss	ISCA_ID_pn_720	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
nssv1607339	Remapped	Perfect	NC_000010.11:g.(?_ 55756766)_(5700317 0_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,756,766	57,003,170
nssv1607339	Remapped	Perfect	NC_000010.10:g.(?_ 57516526)_(5876293 0_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	57,516,526	58,762,930
nssv1607339	Submitted genomic		NC_000010.9:g.(?_5 7186532)_(58432936 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	57,186,532	58,432,936

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1607339	ISCA_ID_pn_720	NCBI36: NC_000010.9:g.(?_57186532)_(58432936_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	Submitter	Female	13 weeks gestation	1

No genotype data were submitted for this variant

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