nstd164 - Karolak et al 2019 - dbVar Study

nstd164 (Karolak et al. 2019)

Organism:: Human
Study Type:: Case-Set
Submitter:: Pawel Stankiewicz
Description:: To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n=14), congenital alveolar dysplasia (n=2), and other lethal lung hypoplasias (n=10). For more details please refer to our publication, linked below. See Variant Summary counts for nstd164 in dbVar Variant Summary.
Publication(s):: Karolak et al. 2019

Links

Source: NCBI

Detailed Information: Download 10 Variant Regions, Download 13 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000005.10	Chr5	2	3	Remapped	NC_000005.10
NC_000017.11	Chr17	8	10	Remapped	NC_000017.11

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000005.9	Chr5	2	3	Submitted	NC_000005.9
NC_000017.10	Chr17	8	10	Submitted	NC_000017.10

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000005.9	Chr5	2	2	0	0	0	0	3	3	0	0	0	0
NC_000017.10	Chr17	8	8	0	0	0	0	10	10	0	0	0	0

Samplesets

Number of Samplesets: 1

Size:: 13
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Samples for sampleset 1
Sample ID	Subject ID	Subject Phenotype
P076	P076	Not reported
P012	P012	Not reported
P040	P040	Not reported
P006	P006	Not reported
P015	P015	Not reported
P035	P035	Not reported
P073	P073	Not reported
P016	P016	Not reported
P019	P019	Not reported
P038	P038	Not reported
P009	P009	Not reported
P041	P041	Not reported
P026	P026	Not reported

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Oligo aCGH	Curated	10
2	Discovery	Sequencing	Curated	3

dbVar

Database of genomic structural variation

nstd164 (Karolak et al. 2019)

Links

Detailed Information: Download 10 Variant Regions, Download 13 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Remapping summary:

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

No validation data were submitted for this study.

dbVar

Database of genomic structural variation

nstd164 (Karolak et al. 2019)

Links

Detailed Information: Download 10 Variant Regions, Download 13 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38.p12 (hg38)GRCh37 (hg19)

Remapping summary: GRCh37->GRCh38.p12

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

No validation data were submitted for this study.

Variant Summary for:

Remapping summary: