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dbVar

Database of genomic structural variation

nsv7097867

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:388

Description:NC_000007.13:g.(?_142456998)_(142457385_?)del AND Hereditary pancreatitis
Publication(s):LaRusch et al. 2014, Solomon 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: 428 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):751,744-752,131

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097867	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187562.1	Chr7\|NT_18 7562.1	751,744	752,131
nsv7097867	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	142,456,998	142,457,385

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789477	deletion	Multiple	Multiple	Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis	Uncertain significance	ClinVar	RCV003113114.2, VCV002424533.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789477	Remapped	Perfect	NT_187562.1:g.(?_7 51744)_(752131_?)d el	GRCh38.p12	First Pass	NT_187562.1	Chr7\|NT_18 7562.1	751,744	752,131
nssv18789477	Submitted genomic		NC_000007.13:g.(?_ 142456998)_(142457 385_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	142,456,998	142,457,385

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
nssv18789477	GRCh37: NC_000007.13:g.(?_142456998)_(142457385_?)del	deletion	germline	Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis	Uncertain significance	ClinVar	RCV003113114.2, VCV002424533.2

No genotype data were submitted for this variant

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