Variant Details

Variant: nssv543668

Internal ID

15512195

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:238489668..238610506	hg38	UCSC Ensembl
Inner	chr1:238652968..238773806	hg19	UCSC Ensembl
Inner	chr1:236719591..236840429	hg18	UCSC Ensembl
Inner	chr1:234979009..235099847	hg17	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	120839
hg19	120839
hg18	120839
hg17	120839

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv468550

Supporting Variants

Samples

NINDS_212

Known Genes

Method

SNP array

Analysis

An HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.

Platform

Not reported

Comments

Reference

Itsara_et_al_2009

Pubmed ID

19166990

Accession Number(s)

nssv543668

Frequency

Sample Size	1557
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	n/a