Variant Details

Variant: nsv458305

Internal ID

15518370

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:76484662..76521109	hg38	UCSC Ensembl
Inner	chr18:74196618..74233066	hg19	UCSC Ensembl
Inner	chr18:72325606..72362054	hg18	UCSC Ensembl
Inner	chr18:72325606..72362054	hg17	UCSC Ensembl

Cytoband

18q23

Allele length

Assembly	Allele length
hg38	36448
hg19	36449
hg18	36449
hg17	36449

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv535264

Samples

NINDS_273

Known Genes

FLJ44313, ZNF516

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)

nsv458305

Frequency

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