Variant Details

Variant: nsv442999

Internal ID

15501875

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248626178..248627128	hg38	UCSC Ensembl
Inner	chr1:248789479..248790429	hg19	UCSC Ensembl
Inner	chr1:246856102..246857052	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	951
hg19	951
hg18	951

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1671914, nssv1671904, nssv1671911, nssv1671906, nssv1671909, nssv1671908, nssv1671907, nssv1671912

Samples

NA11524, NA10492, NA17034, NA14492, NA11376, NA10975, NA00946, NA01814

Known Genes

OR2T11

Method

MLPA

Analysis

We used MLPA to identify presumed duplications as compared to a 0x00E20x20AC0x02DC0x00E20x20AC0x02DCnormal0x00E20x20AC0x21220x00E20x20AC0x2122 diploid genome.

Platform

Not reported

Comments

Presumed ancestral, undeleted (b36.1). OR2T11 is in one arm of a recent inverted ~100-kb duplication (OR deleted from other arm)

Reference

Young_et_al_2008

Pubmed ID

18674749

Accession Number(s)

nsv442999

Frequency

Sample Size	52
Observed Gain	0
Observed Loss	8
Observed Complex	0
Frequency	n/a