Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5200371

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:4,034,195

Description:GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497) AND Severe intrauterine growth retardation

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: 11573 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):34,433,527-38,467,721

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5200371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	34,433,527	38,467,721
nsv5200371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	34,401,304	38,435,497

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16736631	copy number loss	Multiple	Multiple	Severe intrauterine growth retardation; Severe intrauterine growth retardation	Pathogenic	ClinVar	RCV001291973.1, VCV000997072.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16736631	Remapped	Perfect	NC_000006.12:g.(?_ 34433527)_(3846772 1_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	34,433,527	38,467,721
nssv16736631	Submitted genomic		NC_000006.11:g.(?_ 34401304)_(3843549 7_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	34,401,304	38,435,497

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
nssv16736631	GRCh37: NC_000006.11:g.(?_34401304)_(38435497_?)del	copy number loss	de novo	Severe intrauterine growth retardation; Severe intrauterine growth retardation	Pathogenic	ClinVar	RCV001291973.1, VCV000997072.1

No genotype data were submitted for this variant

You are here: NCBI