Variant Details

Variant: nsv514844

Internal ID

15813203

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:41350342..41369322	hg38	UCSC Ensembl
Inner	chr17:39506594..39525574	hg19	UCSC Ensembl
Inner	chr17:36760120..36779100	hg18	UCSC Ensembl

Cytoband

17q21.2

Allele length

Assembly	Allele length
hg38	18981
hg19	18981
hg18	18981

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv2832403, nssv2832436, nssv2832439, nssv2832405, nssv2832433, nssv2832399, nssv2832425, nssv2832391, nssv2832424, nssv2832432, nssv2832434, nssv2832428, nssv2832393, nssv2832435, nssv2832426, nssv2832430, nssv2832410, nssv2832414, nssv2832398, nssv2832443, nssv2832441, nssv2832402, nssv2832392, nssv2832429, nssv2832427, nssv2832406, nssv2832419, nssv2832395, nssv2832422, nssv2832418, nssv2832413, nssv2832415, nssv2832423, nssv2832421, nssv2832416, nssv2832394, nssv2832397, nssv2832407, nssv2832408, nssv2832396, nssv2832442, nssv2832420, nssv2832431, nssv2832412, nssv2832409, nssv2832400, nssv2832440, nssv2832411, nssv2832404, nssv2832437, nssv2832417, nssv2832401, nssv2832438

Samples

NA19237, NA19222, NA21636, NA19204, NA18508, NA18935, NA18917, NA21648, NA19190, NA19098, NA21359, NA18489, NA19191, NA18860, NA19131, NA18916, NA19235, NA19239, NA19209, NA21634, NA18908, NA21344, NA19200, NA19152, NA18933, NA18859, NA19184, NA19205, NA18485, NA19103, NA19202, NA19114, NA19142, NA18930, NA19113, NA19154, NA19101, NA19257, NA19095, NA19094, NA19115, NA19108, NA19140, NA19240, NA19100, NA21361, NA19182, NA19211, NA19093, NA18500, NA18506, NA21312, NA18522

Known Genes

KRT33A, KRT33B

Method

Oligo aCGH

Analysis

ADM2 threshold = 5

Platform

Agilent Eichler Human CNP 180K v3.0

Comments

Reference

Campbell_et_al_2011

Pubmed ID

21397061

Accession Number(s)

nsv514844

Frequency

Sample Size	2366
Observed Gain	0
Observed Loss	53
Observed Complex	0
Frequency	n/a