Variant Details

Variant: nsv514673

Internal ID

15813032

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:70480337..70482673	hg38	UCSC Ensembl
Inner	chr12:70874117..70876453	hg19	UCSC Ensembl
Inner	chr12:69160384..69162720	hg18	UCSC Ensembl

Cytoband

12q15

Allele length

Assembly	Allele length
hg38	2337
hg19	2337
hg18	2337

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv2793889, nssv2791986, nssv2791882, nssv2797000, nssv2794036, nssv2790415, nssv2791979, nssv2788607, nssv2790942, nssv2795231, nssv2791460, nssv2797627, nssv2791768, nssv2796848, nssv2791715, nssv2793553, nssv2789291, nssv2792436, nssv2791891, nssv2788838, nssv2795458, nssv2793789, nssv2792919, nssv2793297, nssv2792326, nssv2791163, nssv2794143, nssv2798349, nssv2797871, nssv2792867, nssv2791557, nssv2788780, nssv2791842, nssv2792453, nssv2791991, nssv2789884, nssv2797661, nssv2797174, nssv2795605, nssv2790458, nssv2796967, nssv2792697, nssv2797807, nssv2794603, nssv2795413, nssv2794903, nssv2792690, nssv2797624, nssv2795598, nssv2795729, nssv2790124, nssv2788572, nssv2796789, nssv2789630, nssv2788792, nssv2795209, nssv2793290, nssv2798343, nssv2794940, nssv2791939, nssv2794269, nssv2798403, nssv2794389, nssv2793240, nssv2796833, nssv2796975, nssv2790024, nssv2797751, nssv2796008, nssv2796515, nssv2797591, nssv2797494, nssv2795523, nssv2791281, nssv2796156, nssv2795533, nssv2791415, nssv2790945, nssv2789530, nssv2789057, nssv2788593, nssv2795479, nssv2788599, nssv2791916, nssv2794832, nssv2798068, nssv2789502, nssv2798075, nssv2793642, nssv2794084, nssv2790110, nssv2795739, nssv2795964, nssv2789022, nssv2797788, nssv2789742, nssv2793983, nssv2790277, nssv2793583, nssv2792254, nssv2790990, nssv2793028, nssv2792758, nssv2788870, nssv2791358, nssv2788983, nssv2795725, nssv2798438, nssv2789307, nssv2798186, nssv2797293, nssv2793859, nssv2791285, nssv2795565, nssv2795349, nssv2789354, nssv2794210, nssv2798481, nssv2790977, nssv2794331, nssv2789063, nssv2796929, nssv2795781, nssv2794583, nssv2790002, nssv2797870, nssv2792079, nssv2794064, nssv2793397, nssv2789098, nssv2794879, nssv2791033, nssv2798328, nssv2791759, nssv2789767, nssv2788725, nssv2794071, nssv2797180, nssv2796113

Samples

NA12717, NA11830, NA21636, NA21317, NA21477, NA21524, NA21423, NA18924, NA18621, NA12286, NA11829, NA10845, NA10851, NA12273, NA18524, NA12414, NA18980, NA18935, NA12843, NA11920, NA21310, NA12045, NA18486, NA12751, NA21489, NA21648, NA21386, NA12340, NA12146, NA18959, NA21475, NA19190, NA18510, NA12750, NA12155, NA07357, NA18969, NA07346, NA18940, NA18550, NA12812, NA10846, NA21359, NA21526, NA12336, NA19191, NA18860, NA18960, NA18942, NA21401, NA19197, NA18571, NA21493, NA11917, NA12275, NA19199, NA06984, NA21512, NA21525, NA18966, NA12889, NA12815, NA21362, NA21634, NA21400, NA18973, NA19007, NA10847, NA21313, NA19247, NA12489, NA19194, NA12343, NA10831, NA12872, NA18933, NA12485, NA18956, NA18859, NA12877, NA12376, NA18572, NA18948, NA10838, NA18981, NA12234, NA21485, NA19208, NA18566, NA18573, NA11840, NA12056, NA18532, NA12145, NA19101, NA21583, NA10856, NA18570, NA21309, NA12546, NA21316, NA18576, NA18953, NA18978, NA18632, NA19206, NA18542, NA18961, NA12864, NA18564, NA12272, NA10840, NA19193, NA07348, NA21361, NA21513, NA06986, NA18594, NA18484, NA12740, NA21580, NA10843, NA07349, NA18994, NA18636, NA21614, NA21486, NA18854, NA18552, NA18852, NA21363, NA19224, NA18968, NA18624, NA21487, NA21514, NA18562, NA18620, NA18997

Known Genes

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)

nsv514673

Frequency

Sample Size	2366
Observed Gain	0
Observed Loss	139
Observed Complex	0
Frequency	n/a